References

Aberfeld DC, Hinterbuchner LP, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965 88 313-22 Currarino G, Silverman FN. Premature obliteration of the sternal sutures and pigeon-breast deformity. Radiology 1958 70 532-40 De Kremer RD, Givogri I, Argarana CE, Hliba E, Conci R, Boldini CD, Capra AP. Mucopolysaccharidosis type VII (beta-glucuronidase deficiency) a chronic variant with an oligosymptomatic severe skeletal...

Associations

Acro-osteolysis (familial, chemical, leprosy, etc.) type B ectrodactyly Asphyxiating thoracic dysplasia C syndrome (Opitz trigonocephaly syndrome) Chondrodysplasia punctata, X-linked Chondroectodermal dysplasia (Ellis-van Creveld) Chromosome trisomy syndromes (9p, 13,18) Fibrodysplasia ossificans progressiva Indifference-to-pain syndrome Metaphyseal chondrodysplasia (Jansen) Neurotrophic conditions (acrodystrophic neuropathy, amyloid neuropathy, Charcot-Marie-Tooth syndrome, diabetes,...

Radiographic Synopsis

Rib and vertebral anomalies, including segmentation defects (spondylocostal dysostosis). 2. Rib and vertebral segmentation defects and atre-sia urogenital anomalies (Casamassima-Morton-Nance syndrome) 3. Rib and vertebral segmentation defects kypho-scoliosis intracranial calcifications multiple odon-togenic keratocysts of jaw flame-shaped pseudocysts of phalauges (Gorlin syndrome) 1. Rib and vertebral segmentation defects megomel-ic limb shortening (COVESDEM syndrome).

Abnormalities of the Shape and Contour of the Long Bones

The delicate balance of bone resorption and bone formation, as outlined above, can be altered by a number of factors, including congenital and acquired diseases and drugs, notably diphosphonates (Miller and Jee 1979). As stated earlier, the modeling process produces major changes in the shape and size of the bones (Silverman 1990). Defective modeling of the tubular bones can result in either increased or reduced tubulation. Overtubulation, a condition of diminished periosteal deposition, gives...

Large Epiphyses

Large epiphyses can be confined to a specific anatomic site or occur on a generalized basis. Localized cartilaginous overgrowth of one or more epiphyses is seen in dysplasia epiphysealis hemimelica (Trevor disease, OMIM 127800), a disorder of unknown inheritance, affecting boys about three times as frequently as girls in the age range of 2-14 years (Trevor 1950). Histologically, the lesion is undistin-guishable from an ordinary osteochondroma (Lang and Azouz 1997). The epiphyseal involvement is...

Metacarpotalar Syndrome

Aminopterin methotrexate embryopathy Arthrogryposis multiplex congenita Auriculo-osteodysplasia syndrome C syndrome (Opitz trigonocephaly syndrome) syndrome Cerebro-costo-mandibular syndrome Congenital dislocation of the hip Congenital dislocation of the hip, -finger hyperextensibility-facial dysmorphism Cutis laxa-growth deficiency syndrome Fibrodysplasia ossificans progressiva Geroderma osteodysplastica hereditaria Hallermann-Streiff syndrome Indifference-to-pain syndrome syndrome Multiple...

Chapter

Alessandro Castriota-Scanderbeg, M.D. The bones of the foot are assigned to the following three anatomical divisions the forefoot (metatarsals and phalanges) the midfoot (the cuneiforms, cuboid and scaphoid) and the hindfoot (talus and calcaneus). As discussed in the next section in more detail, this division has also functional implications. The three cuneiform bones articulate with the base of the first three metatarsals, while the cuboid, located on the lateral side of the foot, articulates...

Jarcho Levin Syndrome With Caudal Regression Syndrome

Aphalangy with hemivertebrae Cervico-oculo-acoustic syndrome (Wildervanck syndrome) Chromosome 8 trisomy syndrome Dyssegmental dysplasia with glaucoma Focal dermal hypoplasia (Goltz-Gorlin syndrome) Lumbo-costo-vertebral syndrome Multiple pterygium syndrome (Escobar syndrome) Nevoid basal cell carcinoma syndrome (Gorlin syndrome) Skeletal dysplasia, mental retardation, abducens palsy Spinal dysplasia,Anhalt type Spondylothoracic dysostosis VATER association, including VACTERL

Juberg Hayward Syndrome Intelligence School

Absent tibias-TPT-polydactyly Acrofacial dysostosis, cleft lip-palate-TPT Chromosome trisomy syndromes (13,22) Lung agenesis-congenital heart disease-TPT Radial hypoplasia-hypospadias-maxillary diastema Radial hearing impairment-TPT Tibial hemimelia-polysyndactyly-TPT Tricho-rhino-phalangeal dysplasia TPT-brachyectrodactyly syndrome TPT-polysyndactyly syndrome

Small Sciatic Notches

Narrowing of the greater sciatic notches The normal appearance of the sciatic notch changes from infancy to adulthood. In normal adults the greater sciatic notch is a wide, smooth concavity of the superomedial margin of the innominate bone, enclosed between the posteroinferior iliac spine superiorly and the ischial spine inferiorly. Sex differences in the width of the greater sciatic notch, which is wider in female subjects, are well established in both fetuses and adults Holcomb and...

Cortical Thinning

Decrease in thickness of the cortex Thin cortices are among the radiographic stigmata of osteoporosis, a pathologic state characterized by a net decrease in the skeletal mass. The reader is referred to Chapter 9, section entitled Osteoporosis for a more detailed discussion of the pertinent disorders. This section also shows remarkable overlap with others in this book see Chapter 2, sections Slender, Fhin or Twisted Ribs, and Slender Clavicles and Chapter 9, section Multiple Fractures, Fragile...

Epiphyseal Abnormalities

The epiphyses in the hands frequently undergo minor changes in shape, size or structure, many of which occur in the general population as normal anatomical variants. One example is the occurrence of multiple centers of ossification in the proximal phalanx of the thumb. Some other epiphyseal changes unique to the hand, including cone-shaped epiphyses, pseudoepiphyses, and ivory epiphyses, are found in both normal and affected individuals. Although these changes, which are the subject of this...

Le Rapport Corticodiaphysaire Tibial Pendant La Croissance

Le rapport cortico-diaphysaire tibial pendant la croissance.Arch Fr Pediatr 1962 19 805-17 Crisp AJ, Brenton DP. Engelmann's disease of bone. A systemic disorder Ann Rheum Dis 1982 41 183-8 Lachman R, Crocker A, Schulman J, Strand R. Radiological findings in Niemann-Pick disease. Radiology 1973 108 659-64 Matsubara T, Yoshiya S, Maeda M, Shiba R, Hirohata K. Histologic and histochemical investigation of Gaucher cells. Clin Orthop 1982 166 233-42 McAlister WH, Herman...

Defects of Spinal Alignment

This chapter provides an overview of the causes and characteristics of congenital scoliosis and kyphosis and of other varieties of spinal malalignment related to skeletal dysplasias, metabolic disorders, and malformation syndromes. A brief discussion of idiopathic scoliosis is also included. In patients with an abnormal spinal curve, plain film radiography is employed after clinical examination to confirm the presence of the spinal defect, estimate its magnitude and location, and rule out...

Abnormalities of Cranial Development and Ossification

Variability is the outstanding characteristic of the pediatric skull from infancy throughout childhood and adolescence. Variations may affect skull size and shape, degree of mineral content, depth of vascular grooves, appearance of the diploic structure and con-volutional markings, pattern of sutural ossification and their width, etc. These variations can be so conspicuous as to become indistinguishable from true pathologic changes unless other manifestations of the disease are taken into...

Osteosclerosis Hyperostosis

Sickle Cell Anemia Trabecula Photo

Increased density of trabecular bone osteosclerosis , thickening of cortical bone hyperostosis Whyte 1997 Increased bone mass, the result of focal or widespread osteosclerosis and or hyperostosis, can occur in association with any of a variety of conditions, including metabolic and endocrinological disorders, neoplasms, infections, trauma, skin disorders, various arthritides, sickle cell anemia, and several primary or secondary disorders of bone. In addition, there is a sizable group of...

Abnormalities of the Mandible

The mandible is bilaterally symmetrical and has a horseshoe configuration when viewed axially. It is formed from two paired hemimandibles that are fused anteriorly in the midline at the level of the mandibular symphysis. Each hemimandible is L-shaped when viewed from the side, comprising a horizontal body and a vertical ascending ramus that join at the mandibular angle. The angle and ascending ramus serve as the site of attachment of the muscles of mastication, such as the masseter, medial...

Abnormal Shape or Size of the Chest

This section summarizes the disorders associated with a substantial change in the shape or size of the thoracic cage, with an emphasis on those that are genetically determined. Although pectus excavatum and carinatum are primary anomalies of the sternum and chondrocostal junctions, they modify the thoracic shape to a significant extent. In normal subjects, the thorax is bilaterally symmetrical and vertically elongated, with a narrow upper portion and wider lower two-thirds. Minor anatomical...

Facial Clefts

Linear discontinuities in the facial bones and or soft-tissues The diverse facial clefts fall naturally into two broad categories a group of defects that have a predictable anatomical distribution that follows the embryologic lines of fusion and are due to errors in early morphogenesis and a group of nonanatomical, unusual patterns of facial clefting that occur as one manifestation of the amniotic band disruption sequence Coleman and Sykes 2001 Eppley et al. 1998 Stelnicki et al. 1997 ....

Aseptic Necrosis

Aseptic Knee Injuries

Ischemic necrosis involving the epiphysis or the subarticular area By convention, the term 'ischemic necrosis' is used to describe bone infarction involving the epiphysis or areas of subarticular location, whereas the term 'bone infarct' is applied to areas of metaphyseal and diaphyseal involvement. Many other designations are currently used for aseptic necrosis, including avascu-lar necrosis, osteonecrosis, and several eponyms, each of which is applied to a specific anatomical site. It is now...

Ghaber T-online.de

Congenital deformities of the upper extremities. Ejnar Munksgaard, Copenhagen, 1949 Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury-Ecob R, Hennekam RCM, van Buggenhout G, van Haeringen A,Woods CG, van Essen AJ, de Waal R,Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999 99 143-53 De Smet L, Devriendt K, Fryns JP. Further evidence for germinal...

Prognathism

Protrusion of the mandible can occur because of true mandibular enlargement absolute prognathism or because of maxillary hypoplasia with retrusion of the midface relative prognathism Ogasawara et al. 2002 . In both cases, the protruding mandible results in malocclusion with an anterior open bite and in mandibular dysfunction. Internal derangement of the temporomandibular joint and disc displacement are prominent complications in those cases in which prognathism is associated with mandibular...

Pectus Excavatum

Pectus Excavatum

Inward depression of the lower portion of the sternum Pectus excavatum, or funnel chest, is usually an isolated anomaly. However, it can also occur in association with other skeletal and nonskeletal defects or in the context of heritable disorders of the connective tissue, including Marfan syndrome and Ehlers-Dan-los syndrome. Moreover, the occurrence of idiopath-ic scoliosis in patients with anterior chest wall deformity is higher by a factor of 10 than in the general population Waters et al....

Abnormalities of the Long Bones in the Upper Extremities

Congenital Limb Deficiency

Limb malformations can be classified as reduction deficiencies , excess, and fusion or segmentation deformities. The last often occur in association with reduction deformities. A more complete classification system includes the following categories I failure of formation of parts II failure of differentiation separation of parts III duplication IV overgrowth V undergrowth VI congenital constriction band syndrome and VII generalized skeletal abnormalities Swanson 1976 . The prevalence of babies...

Clavicular Abnormalities

This section summarizes the most common clavicular abnormalities encountered in bone dysplasias and malformation syndromes. Many such abnormalities are similar to those involving other anatomical locations, because they occur as part of the same systemic disorder. Therefore, the significant overlap between this and other chapters in the book is not surprising. There may also be some overlap within the section, owing to the possible co-existence of more than one clavicular defect in the same...

Slender Tubular Bones

Congenital Contractural Arachnodactyly

Activity is essential to the normal growth and development of bones. Inactivity from any cause, including neuromuscular disorders and prolonged immobilization or disuse, produces osseous, articular, and soft tissue changes. Osteoporosis, growth disturbances and deformities, fractures, soft tissue atrophy or - less frequently - hypertrophy, heterotopic ossification, cartilage atrophy, and synovitis are examples of pathophysiologic responses to the altered equilibrium between muscle activity and...

Rib Notching

Rib Scalloping Notching

Notching can occur at the inferior or superior edges of the ribs. Inferior rib notching can be seen in a wide variety of conditions, most commonly reflecting chronic pressure on the rib from an enlarged element of the neurovascular bundle. Given this pathogenetic mechanism, inferior rib notching is encountered much less frequently in young children than in adolescents or adults. Moreover, the notch is outlined by Fig. 2.25. Aortic coarctation in a 1-year-old boy. Observe distinct notching of...

Madelung Deformity

Short and dorsolaterally curved radius, tilting of distal ulna, and dorsal subluxation dislocation of ulna The primary event in Madelung deformity is a growth disturbance that involves the radius while sparing the ulna Anton et al. 1938 . The unequal growth of radius and ulna results in dorsal bowing of distal radius, sloping of its distal epiphysis, and wedging of the carpus triangularization of the carpus between deformed radius and protruding ulna, with the lunate at the apex of the wedge....

Brachyproxiphalangy

Bilateral Madelung Deformity

Familial shortening of the proximal phalanges does not seem to occur in isolation, but only in association with shortening of other bones in the hand, particularly in the context of brachydactyly type C OMIM 113100 Poznanski 1984 . This complex type of brachydactyly encompasses a heterogeneous spectrum of digital anomalies, whose distinctive feature is shortening of the proximal and middle phalanges of the 2nd and 3rd fingers combined with relatively normal distal phalanges. Marked shortening...

Angelshaped Phalanges

Chondrodysplasia Punctata

Abnormal shape of middle phalanges, reminiscent of the little angels used to decorate Christmas trees This characteristic structural anomaly of the middle phalanges is due to a diaphyseal cuff the wings of the angel surrounding a meta-diaphyseal core the body of the angel , with a cone-shaped epiphysis at the bottom the skirt and a distal pseudoepiphysis located at the top the head . Giedion identified eight types of angel-shaped epiphyses, differing in the appearance of the 'body' empty or...

Small Acetabular Angle

Hypoplastic Iliac Bones

As already mentioned, horizontal acetabula are seen most commonly in association with hypoplastic iliac bones and small sciatic notches. This pelvic pheno-type is therefore encountered in many of the disorders discussed elsewhere in the chapter, including thanatophoric dysplasia OMIM 187600 , achon- Fig. 4.17. Achondroplasia in a newborn. Note horizontal acetabular roofs, and small, squared iliac bones, with lack of flaring. The greater sciatic notches are short. The ischial and pubic bones are...

Orbital Hypotelorism

Craniosynostosis Micropenis

Decreased interorbital distance The diagnosis of hypotelorism is made clinically. On inspection, the interpupillary distance and the inner and outer canthal distances can be measured, allowing a meaningful appraisal of eye morphology and position see next section . A short interorbital distance can be a morpho-genetic variant in otherwise normal individuals. Hypotelorism also occurs as a result of premature closure of the metopic suture see Craniosynostosis and in syndromes with midface...

Short Ribs

Rudimentary Rib

Generalized shortening of the ribs leads to a narrow thorax. Given the significant overlap between these two topics, the reader is referred to the section headed Small Thorax in this chapter for a more detailed discussion. A few additional comments are provided here. Shortening may be confined to a single rib or to a few ribs and thus manifest as a focal lesion with no effects on the overall size of the thoracic cage. Such a situation may be due to a developmental defect or to superimposed...

Joint Laxity Joint Hypermobility

Hyperextensible joints, increased range of joint motion The osseous surfaces of a synovial articulation are bound together by a fibrous capsule externally reinforced by a variety of supporting structures tendons, aponeuroses, fasciae, and ligaments and, at some joint sites, by accessory intra-articular ligaments e.g., the cruciate ligaments of the knee . The fibrous capsule represents the outer layer of the articular capsule the inner layer being the synovial membrane and is composed of...

Amyoplasia Congenita Disruptive Sequence

Amyoplasia congenita disruptive sequence Arthrogryposis, distal, types I and II Arthrogryposis-advanced skeletal maturation-unusual facies Camptodactyly-ichthyosis syndrome syndrome Chondrodysplasia punctata recessive, X-linked dominant Chromosomal abnormalities trisomy 8, trisomy 9, mosaic, 13, trisomy 18, XXXXY, deletion 11q, duplication 4p, duplication 10q, duplication 15q Contractural arachnodactyly, congenital Beals syndrome Dermo-chondro-corneal dystrophy of Fran ois Duchenne muscular...

Postaxial Polydactyly

Greig Cephalo Polydactyly Syndrome

Increased number of digits on the ulnar side of the hand As already mentioned in the previous section, postaxial hexadactyly OMIM 174200 is by far the commonest form of Polydactyly, accounting for about 78 of all Polydactylies. It is often an isolated anomaly, but can also occur in association with several malformation syndromes or with multiple other anomalies that do not clearly fit into well-defined syndromes. Two phenotypically and possibly genetically different forms of postaxial...

Zono Gene Barlow Annua

Alessandro Castriota-Scanderbeg, M.D. Bruno Dallapiccola, M.D. As mentioned in Chapter 5, four constitutive segments of the limb are recognized a root or zono-skeleton a proximal segment or stylopodium humerus femur a medial segment or zeugopodium radius ulna, tibia fibula and a distal part or autopodium hand and foot . Several complex processes are involved in the formation of these segments. Their action is coordinated, but so far little is understood about it. Just like the long bones, the...

Early Ossification of the Femoral Head

In normal children, the ossific nucleus of the femoral head appears between 2 and 8 months of age. Ossification occurs earlier in girls than in boys, since skeletal maturation is more advanced in girls than in boys at all ages. The presence of calcific deposits within the secondary nucleus of the femoral head at birth is rare, being found in asphyxiating thoracic dysplasia and Ellis-van Creveld syndrome. In neonates with asphyxiating thoracic dysplasia Jeune syndrome, OMIM 208500 , premature...

Abnormalities of Orbital Size

It is primarily the eye that directs normal orbital growth. In normal circumstances the eye doubles in volume during the 1st year of life and attains 75 of its adult volume by the end of the 3rd year. The shape and size of the orbital cavity are also influenced by the development of the brain and skull. When the eye is underdeveloped but the brain is normal, the orbital plate of the frontal bone appears hypoplastic and the vertical or cranial part is usually normal. When the brain is...

Small Sinuses

Hypoplasia aplasia or obliteration of sinuses There is considerable variation in both shape and size of the sinonasal cavities among different individuals. There are also differences between left and right in the majority of normal individuals. Although usually present at birth, aeration of the maxillary and ethmoid sinuses may be in such an early stage as to go unnoticed on conventional radiograms in the newborn. Within the 1st year of life all of the paranasal sinuses may appear normally...

Terminal Transverse Defect

Amniotic Band

Absence of distal portions of the extremities extending across the width of the hand This defect can involve the phalanges aphalangism , the digits adactylia Fig. 6.21 a,b , or the entire hand acheiria Fig. 6.22 . The entire forearm or arm can be missing amelia . Absence of both hand and foot is termed acheiropodia. As stated earlier, the term ectrodactyly literally means abortion ektroma of finger daktylos and is therefore most appropriately used to designate terminal transverse defects....

Ivory Epiphyses

Ivory epiphyses are relatively common normal variants, occurring with an incidence ranging from 4 in girls to 8 in boys de Iturizza and Tanner 1969 . They normally occur only in the distal phalanges and in the 5th middle phalanx, and are most common in the 2nd and 5 th distal phalanges Poznanski 1984 . Their structure is one of uniformly sclerotic bone lacking internal trabeculation Fig. 6.49 . It is not uncommon for one such epiphysis to revert to normal before fusion with the shaft is...

Tall Vertebrae

Nevoid Basal Cell Carcinoma Syndrome

Increased vertical dimensions of the vertebral bodies Tall vertebrae are often associated with conditions characterized by severe muscle hypotonia or requiring prolonged recumbency, reflecting diminished compressive forces on the potential longitudinal growth of the vertebral bodies Donaldson et al. 1985 . The resulting increase in the height index i.e., the ratio of superoinferior diameter to anteroposterior diameter is approximately proportional to the degree of inactivity Resnick 1995...

Campomelic Dysplasia

Achondrogenesis, types I and II Acro-fronto-facio-nasal dysostosis syndrome Aminopterin methotrexate embryopathy Chromosomal deletion syndromes 4p-, 4q-, 5p- Chromosomal duplication syndromes 4p , 9p Chromosomal trisomy syndromes 13,18 Craniosynostosis-radial fibular aplasia-cleft lip Hay-Wells syndrome of ectodermal dysplasia Hyperthermia-induced spectrum of defects Nevoid basal cell carcinoma syndrome Gorlin syndrome Oculo-auriculo-vertebral spectrum Oculo-dento-digital syndrome...

Osteoporosis

Scruvy Radiolucent Line

Osteoporotic bones are qualitatively normal but quantitatively deficient. Since these bones appear rarefied and radiolucent on radiograms, the term 'osteopenia' is often used to refer to 'poverty' of bone Hall and Lenchik 1999 Griscom and Jaramillo 2000 . Radiolucent bones, however, are not seen exclusively in osteoporosis, but also in osteomalacia, hyperparathyroidism, neoplasms, and several other conditions of varying pathogenesis Resnick and Ni-wayama 1995 . Thus, the term 'osteopenia' is...

Ankylosis

Calcification Nuchal Ligament

Although ankylosis and synostosis are often used as synonyms,each term implies a distinct mechanism of joint fixation. Synostosis indicates a failure of joint formation, while the true meaning of ankylosis is supervening fixation of a previously normally developed joint. The radiographic and pathological aspects related to the presence of synostosis at specific articular sites are discussed elsewhere in this book. Similarly, congenital disease processes manifesting with multiple synostoses,...

Broad Tubular Bones

Diaphyseal Dysplasia

Several mechanisms can account for broadening of the tubular bones, including defective modeling, cortical hyperostosis, bone marrow hyperplasia or infiltration, and new bone deposition in the periosteum and adjacent soft tissues. As a consequence, broad tubular bones are seen in a wide variety of disorders, both congenital and acquired, including several skeletal dysplasias, metabolic disorders, and hematological diseases. Depending on the underlying etiology, broadening of the long bones is...

Hypoplasia Aplasia Irregularities Fragmentation of the Femoral Head

Perthes Histologic Section Femoral Head

Small absent femoral heads Perthes-like changes of the femoral capital epiphysis Hypoplasia of the capital femoral epiphyses, or their absence at an age at which they are normally present, may merely reflect a delay in skeletal maturation, a subject discussed elsewhere in this book. Asymmetrical development of the femoral epiphyses is common in normal infants and resolves spontaneously with further growth. However, a very small ossification center may underline a disturbance of epiphyseal...

Premature Degenerative Joint Disease

Spondyloepiphyseal Dysplasia Congenita

Degenerative joint disease is the most common joint disease and its frequency is higher in older individu-als.Yet this disease cannot be considered as an invariable consequence of aging Alexander 1990 Oddis 1996 . This section summarizes the situations in which degenerative osteoarthritis becomes clinically evident in young adults well before the 5th and 6th decades of life, after which an age-related predisposition to degenerative joint disease appears to increase exponentially Resnick and...

Block Vertebrae

Klippel Feil Syndrome Pictures

Congenital synostosis between two The term 'block' vertebrae is applied to congenital synostosis of vertebrae in which bony continuity results from failure of normal segmentation of the vertebral somites at the preosseous stage during embryonic development 3-8 weeks of gestation . 'Fusion' is also widely used for these segmentation errors, although semantically it refers to intervening union between previously well-developed vertebrae and is therefore more appropriate for the acquired forms....

Metaphyseal Spurs

Menkes Kinky Metaphysis

Osseous beaking at the edges of the metaphysis Bony outgrowths extending longitudinally from the metaphyseal margins are found in a known group of metabolic disorders and skeletal dysplasias and are therefore of diagnostic importance in the recognition of specific diseases. The small metaphyseal excrescences observed in scurvy are lateral extensions of the abnormal provisional zone of calcification Nerubay and Pilder-wasser 1984 . Nutritional copper deficiency hypo-cupremia can be seen in...

Defects in Segmentation

Child Bifid Rib

Fusion or bifurcation of the ribs Segmentation defects are the third most common 20 congenital anomalies affecting the ribs, after supernumerary ribs 30 and agenesis aplasia of the ribs 26 . Under the designation 'segmentation defects' a number of different anomalies are grouped together, including bifidity, fusion, and bridging, each of which can be found in isolation or in variable combinations with one or more of the others Fig. 2.26 . Forked ribs are more common than rib fusion Guttentag...

Vertical Talus

Congenital Vertical Talus

Congenital vertical talus is a rare foot deformity characterized by two fixed deformities, equinus of the hindfoot with a vertical talus and dislocation of the talonavicular joint with dorsiflexion of the forefoot at the midtarsal level Badelon et al. 1984 . When the heel is held in marked equinus and the forefoot everted a convex plantar surface of the foot results, which is the reason for the designation 'rocker-bottom deformity.' The deformity may go unrecognized at birth owing to its...

Clubfoot and Other Foot Deformities

Metatarsal Varus Deformity

At birth, the normal infant's foot is proportionately longer and thinner than that of the older child, and the joints of the ankle and foot display a wide range of motion. The foot can be dorsiflexed so far that the top of the foot touches the tibia anteriorly, and flexed in the plantar direction so far that the dorsum of the forefoot is parallel with the tibia. The anterior part of the foot must be flexible enough to be moved into 45 of adduction or abduction. Although the newborn's feet may...

Protrusio Acetabuli

Protrusio Acetabuli With Trauma

Protrusio acetabuli most commonly occurs as a secondary event in disorders characterized by osteoporosis and osteomalacia, or in association with degenerative osteoarthritis, rheumatoid arthritis, and Paget disease. A special type of protrusio acetabuli is that occurring with acetabular fractures and medial dislocation of the hip Fig. 4.18 . Protrusio acetabuli in degenerative osteoarthritis is seen with cartilage loss, and migration of the femoral head, at the super-omedial aspect of the...

Stippled Epiphyses

Warfarin Stippled Bone Epiphyses

Dense, punctate pattern of epiphyseal calcification This aberrant pattern of epiphyseal calcification, which is clearly different from the epiphyseal irregularities that represent normal developmental variations Swischuk and John 1995 , occurs most typically in chondrodysplasia punctata. Patterns vary among different types to some extent Theander and Pettersson 1978 . In chondrodysplasia punctata, rhi-zomelic type OMIM 215100 , punctate calcifications occur primarily in the hips and shoulders,...

Odontoid Hypoplasia Aplasia

Year Old Breastfeeding

The first cervical vertebra atlas and the odontoid process, or dens, of the second cervical vertebra axis originate from the first cervical sclerotome mesenchyme, whereas the body, lateral masses, and posterior arch of the axis arise from the second cervical sclerotome Currarino 2002 . The odontoid process forms from two independent ossification centers that appear during the 5th fetal month and Fig. 3.44. Ossiculum terminale in a 10-year-old girl. Note the presence of an ossicle lying at the...

Sacral Agenesis

Sacral Dysgenesis

Sacral agenesis is a rare anomaly consisting of partial two-thirds of cases or total one-third of cases absence of the sacrum, often associated with absence of other segments of the lumbar spine. The defect is usually sporadic, and it is most commonly associated with maternal diabetes Stewart and Stoll 1979 Fig. 3.51 . Indeed, sacral agenesis is considered the most specific anomaly among the several sometimes seen in infants of diabetic mothers Dunn et al. 1981 . The association of partial or...

Hypoplastic Dysplastic Dysgenetic Epiphyses

Multiple Epiphyseal Dysplasia

Small, irregular fragmented, late-appearing epiphyses Since epiphyseal ossification parallels the growth and maturation of the remainder of the skeleton, epiphyseal hypoplasia can merely reflect a delay in skeletal maturation. The topic of delayed skeletal age and methods of estimation is discussed in Chapter 9. Asymmetry in the epiphyseal size can be a normal finding, especially in rapidly growing children. However, a single underdeveloped epiphysis may also suggest defective growth caused by...

Irregular Metaphyses

Rickets Ray

X-linked hypophosphatemic rickets in a 2-year-old boy. There is poor mineralization of the metaphyseal regions, with a coarse malacic bone texture. The metaphyses show mild fraying, cupping, and widening Fig. 5.56. X-linked hypophosphatemic rickets in a 2-year-old boy. There is poor mineralization of the metaphyseal regions, with a coarse malacic bone texture. The metaphyses show mild fraying, cupping, and widening Coarse, frayed, disorganized metaphyses with edge indistinctness As...

Supernumerary Carpal Bones

Accessory Ossification Centre Scaphoid

Extra-ossicles throughout the carpus In addition to the normal eight carpal bones, more than 20 accessory ossicles disseminated throughout the carpus have been described O'Rahilly 1953 Poznanski and Holt 1971 . Their incidence varies in different series from 0.3 to 1.6 in the general population O'Rahilly 1953 Bogart 1932 . These extra carpal ossicles produce no symptoms or signs in the majority of cases, and they are usually of no clinical significance. The os centrale, an extra-ossicle...

Absent or Minimal Vertebral Ossification

Hypophosphatasia Images Bony Spur

Unossified or poorly ossified vertebrae Defective ossification occurs in a selected group of skeletal dysplasias. Although the defect is usually widespread, some target areas in the skeleton may be involved to a greater extent, providing important clues to the diagnosis. Vertebral ossification can be defective in the body or posterior arches, or in the entire vertebra. Typically, ossification of the vertebral bodies and sacrum is absent or severely defective in achondrogenesis type IA and IB...

Clubfoot Metatarsus Adductus

Primus Metatarsus Adductus

Talipes equinovarus metatarsus varus Clubfoot and metatarsus varus are two common congenital foot deformities that share certain features specifically, the forefoot is adducted and in varus in both conditions. In fact, metatarsus adductus is a component of the more complex talipes equinovarus deformity this is why these conditions are discussed together. Although the term clubfoot is loosely applied to a number of congenital foot anomalies, an equino-varus deformity is the most common type,...

Joint Contracture Joint Stiffness

Joint Contractures

Limitation loss of active and passive joint motion The issue discussed in the current section encompasses a heterogeneous group of conditions, both inherited and acquired, isolated and associated with syndromic and nonsyndromic malformation spectra, localized to one joint and generalized. An introduction to the contractural abnormalities developing after birth is first provided, followed by a discussion of the congenital forms, which represent the main focus of the section. Flexion contracture...

Tibial Bowing

Neurofibromatosis Bone Deformities

This section has significant overlap with the section Bowed Tubular Bones in this chapter. Most of the general comments provided in that section apply to tibial bowing, including the fact that bowing can be congenital or acquired confined to the tibia or extended to other long bones related to a focal defect, Fig. 5.32. Neurofibromatosis type 1 in a 2-year-old child. Observe anterolateral bending of the distal end of the left tibia and, to a lesser extent, of the fibula. Bowing deformities can...

Disc Calcification

Supraspinous Ligament Calcification

Calcific deposits within the intervertebral disc tissue Calcification of the intervertebral disc can be isolated or occur in the context of systemic disorders, including degenerative, metabolic and syndromic diseases Weinberger and Myers 1978 . As a rule of thumb, and regardless of the chemical nature of the deposit, multiple intervertebral discs are involved with systemic and metabolic disorders, whereas focal disc involvement basically occurs in degenerative disease of the spine of the...

Ulnar Ray Deficiency

Weyers Ulnar Ray Defect

Hypoplasia or aplasia involving the ulna, the carpals located on the ulnar side pisiform and hamate, rarely triquetrum and capitate , and the 4th and 5 th fingers Ulnar ray deficiency is considerably less common than radial ray deficiency. This holds true for both aplasia and hypoplasia of the ulnar ray. The defect is most often isolated and sporadic Birch-Jensen 1949 ,but when associated with other malformations it can be inherited as a mendelian trait. Just like radial defects, ulnar...

Abnormalities of the Foramen Magnum

Hajdu Cheney Syndrome

Variation in shape and or size of the foramen magnum Irregularities in the contour of the foramen magnum, especially on its posterior aspect, are commonly seen in otherwise normal subjects and are related to uneven ossification. Variations in the shape and size of the foramen magnum as detected on radiograms are of limited diagnostic and clinical impor-tance,given that associated defects of such structures as the cerebellum and brain stem are best depicted by cross-sectional imaging...

Fibular Hemimelia

Fibular Hemimelia

Longitudinal deficiency of the fibula Fibular deficiency is a common congenital defect that can occur as a single defect or as part of any of a number of syndromic and nonsyndromic conditions. Therefore, fibular hypoplasia aplasia alone is not of much help in the recognition of specific disorders. Fibular deficiencies may be uni- or bilaterally distributed and can vary in severity from mild hy-poplasia to aplasia Reed 1992 Grogan et al. 1987 Achterman and Kalamchi 1979 Jansen and Andersen 1974...

Coxa Vara

Spondylometaphyseal

Horizontally oriented femoral neck Coxa vara can be a primary deformity or occur as a sequel to faulty intrauterine position, fracture of the femoral neck, or injury to the femoral head. Primary coxa vara can manifest as an isolated defect or occur as part of a metabolic disorder, a skeletal dysplasia, or a malformation syndrome. Coxa vara is seen in conditions characterized by generalized weakening of the skeleton, such as rickets, osteomalacia and osteogenesis imperfecta. Coxa vara and...

Tibial Hemimelia

Longitudinal deficiency of the tibia Longitudinal defects of the tibia range from mild hypoplasia to complete absence. Based on the radiographic appearance, four types of tibial hemimelia have been recognized Schoenecker et al. 1989 type 1, characterized by absent tibia and distally hypoplastic femur type 2, in which the tibia is distally deficient and well developed proximally type 3, in which the tibia is proximally deficient and well ossified distally and type 4, characterized by shortening...

Rib Abnormalities

Congenital anomalies of the ribs are relatively common, accounting for about 2 of all skeletal malformations Coury and Delaporte 1954 . Most congenital defects are minor, isolated anomalies devoid of clinical significance. Examples include minor segmentation defects fused or bifid ribs , supernumerary ribs, and hypoplastic absent ribs. Other rib defects may cause clinical symptoms, such as a supernumerary cervical rib causing thoracic outlet syndrome or rib fusion causing structural scoliosis...

Mesomelic Limb Shortening

Shortening of the middle segments of the extremities radius and ulna tibia and fibula The most common form of mesomelic dwarfism is X-linked dominant dyschondrosteosis Leri-Weill syndrome, OMIM 127300 , a condition manifesting in late childhood and affecting female more frequently and more severely than male subjects. Varying degrees of Madelung deformity and mild shortening of the fibula and tibia, with prominence of its medial portion, are characteristic features Fig. 5.25a,b . Genu valgum,...

Tarsal Synostosis

Calcaneus And Tarsal Coalition

Note bony fusion between the talus and navicular bone. Deformity of the apposing surfaces of talus and calcaneus is also apparent. Reprinted, with permission, from Resnick 1995 Congenital fusion of two or more Many of the general concepts relating to carpal syn-ostosis are also applicable to tarsal synostosis, including those that refer to the pathogenetic mechanisms involved and the terminology. Indeed, congenital tarsal fusion results from a failure of...

Broad Metaphyses

Metaphyseal Dysostoses

As discussed earlier in this chapter in the section Broad Tubular Bones, broadening of the tubular bones, including the metaphyses, can be due to defective modeling, bone marrow hyperplasia infiltration, or cortical hyperostosis. Failure of normal modeling at the diaphyseal-metaphyseal junction during skeletal growth results in broadening and widening Fig. 5.45. Metaphyseal dysplasia Pyle disease . a There is marked widening of the metaphyses and adjacent portions of the diaphyses, with a...

Acroosteolysis Carpotarsal Type

Idiopathic Multicentric Osteolysis

Destruction of bone in the carpotarsal area The acro-osteolyses with major involvement of the carpal and tarsal bones are a heterogeneous group of rare disorders, usually presenting in infancy or early childhood with a clinical picture of multifocal articular destruction Figs. 6.65,6.66 a-c . Although these disorders - loosely labeled 'idiopathic multicentric osteolyses' - have traditionally been classified into Fig. 6.65. Carpotarsal osteolysis. Note complete resorption of the carpal bones...

Symphalangism

Turner Syndrome Drumstick Phalanges

Congenital fusion of one phalanx to another within the same digit Symphalangism results from failure of joint differentiation and should therefore be regarded as a type of synostosis for a more detailed discussion on the terminology used for joint fixation, readers are referred to Chapter 8 . Although the radiographic evidence of joint fixation may be lacking in infancy owing to the prevailing cartilaginous components, indirect signs such as hypoplasia of the joint and a distorted epiphysis...

Multiple Fractures Bone Fragility

Women With Osteogenisis Imperfecta

Multiple breaks in the continuity of bone and or cartilage, reduced bone resistance with increased susceptibility to fracture Multiple fractures may result from abnormal stress applied to normal bones, or from normal stress applied to bones with decreased bony mass osteoporosis , deficient mineralization, or reduced elastic resistance. In this section, the disorders underlying bone incompetence are first discussed, followed by a summary of the situations in which multiple fractures occur in...

Rhizomelic Limb Shortening

Sensenbrenner Syndrome

Shortening of the proximal segments of the extremities humerus, femur By far the most common form of rhizomelic limb shortening is seen in patients with achondroplasia OMIM 100800 , an autosomal dominant disorder with complete penetrance. Although shortening can affect any of the tubular bones, including those in the hands and feet, in patients of all ages, it is most prominent in the proximal segments, especially those of the upper extremities humerus more involved than femur . In infancy,...

Aplasia and Hypoplasia

Totally absent clavicle aplasia and either small clavicle or clavicle with deficient individual segments hypoplasia Deficiency of the clavicle encompasses a wide spectrum of anomalies, ranging from mild hypoplasia to total agenesis. Absence of individual clavicular segments, whether the sternal, central, or acromial segment, can also be encountered. When the bony defect involves the central portion, the radiologic appearance may be indistinguishable from that of neonatal un-united fractures or...

Wide or Thickened Clavicles

Sternocostoclavicular Paget

The clavicles are involved to a variable extent in the majority of the inherited disorders with generalized hyperostosis and sclerosis, defective bone modeling, or both. Clavicular broadening and thickening in such cases are usually bilateral and symmetrical, reflecting a systemic disorder. Yet the distribution of the defect within the clavicle does vary among different disorders. As a result, the clavicle can have a homogeneously broad and or dense appearance or show involvement of individual...

Proximal Femoral Focal Dysplasia

Limb Defects Amelia

Deficiency of the proximal femoral segment The term proximal focal femoral deficiency is applied to a spectrum of malformations in which aplasia of the proximal femur, deficiency of the iliofemoral articulation, and limb length discrepancy occur in varying degrees Bryant and Epps 1991 Fig. 5.31a-c . The defect can occur with or without fibular hemimelia and can be unilateral or bilateral in Fig. 5.31 a, b. Proximal femoral focal dysplasia in a child. a Immediately after birth, the right...

Acroosteolysis Phalangeal Type

Acroosteolysis Scleroderma

Bone resorption of multiple phalangeal tufts Bone destruction at the terminal phalanges occurs in a variety of congenital and acquired disorders. Common causes of acquired bone resorption include several vascular arteriosclerosis obliterans, diabetic gangrene,Raynaud disease , inflammatory psoriatic and rheumatoid arthritis, scleroderma, dermato-myositis , neuropathic diabetes, leprosy, tabes dor-salis, syringomelia, etc. , metabolic hyperparathyroidism , infectious, and traumatic diseases....

Supernumerary Ribs

Unilateral Cervical Rib

Increase in the number of ribs Accessory ribs can arise at the cervical, thoracic, or pelvic level. Cervical ribs can develop with a unilateral or bilateral distribution, most commonly at the level of the seventh cervical vertebra. Rare instances of cervical ribs arising from the sixth cervical vertebra are also well documented Resnick 1995 . Cervical ribs appear as small ossicles or as fully developed bones that reach as far anteriorly as the first thoracic rib, with which they eventually...

Beaked Vertebrae

Hook Shaped Vertebrae

Anterior tongue-like protrusions of the vertebral bodies True beaked vertebrae are seen in a selected group of skeletal dysplasias and metabolic disorders and are therefore of critical importance for their recognition Swischuk 1970 . Anterior tongue-like projections are characteristic of dysostosis multiplex, a designation used for the radiographic abnormalities of mu-copolysaccharidoses and mucolipidoses. Ovoid vertebral bodies pointing anteroinferiorly in the shape of small hooks and...

Abnormal Shape or Size of Vertebrae

Congenital anomalies of the spine are relatively common. Many are isolated defects of little, if any, clinical significance. Others are associated with neural tube defects, such as myelomeningocele and diastemato-myelia, or with nonspinal conditions, such as genitourinary abnormalities and congenital heart disease. Still others are part of the malformation spectrum of a number of skeletal dysplasias and syndromes. The vertebral bodies, posterior elements, and intervertebral discs can be...

Abnormalities of the Skull Base

The skull base consists of five bones, the paired frontal and temporal bones and the unpaired ethmoid, sphenoid, and occipital bone. It extends from the root of the nose anteriorly to the superior nuchal line posteriorly. The occipital bone, which forms the floor of the posterior fossa, can be divided into three distinct portions the basiocciput, comprising the clivus and jugular tubercles the condyles and the occipital squama. The foramen magnum appears as a large, oval-shaped, median aperture...

Radial Ray Deficiency

Radial Ray Deficiency

Hypoplasia or aplasia involving the radius, the radially placed carpals scaphoid, trapezium and trapezoid , and the thumb Radial ray deficiency is a relatively common defect, which can be isolated, associated with other congenital malformations, or occur in the context of distinct syndromes. The defect is either unilateral or bilateral. When bilateral, it can vary in the degrees of severity on the two sides. Bilateral involvement is characteristic of the syndromic disorders, whereas the...

Long Bones

Alessandro Castriota-Scanderbeg, M.D. Each limb consists of four segments, including a root or zonoskeleton a proximal segment or stylopodi-um, consisting of a single bone humerus, femur a medial segment or zeugopodium, consisting of two bones radius and ulna tibia and fibula and a distal part or autopodium, corresponding to hand and foot. The complex processes involved in the formation of these segments and pertinent genetic hints have been reviewed in Chapter 6. Development of the bones in...

Choanal Atresia

Posterior occlusion of the nasal cavity The oronasal membrane that separates the nose from the upper part of the stomodeal cavity is normally perforated on the 35th to 38th day of gestation. Failure of perforation results in varying degrees of choanal atresia, from mild stenosis to complete atresia. The obstruction may be due to osseous cartilaginous 90 or membranous 15 bridging between the lateral walls of the posterior nasal cavity and the vomer. Therefore, the obstructive tissue can be...

Osteoblastoma Of Spine

Tuberculous Spondylitis

Campomelic dysplasia in a newborn. Note marked kyphosis of the cervical spine. From Lachman 1997 184252 vary in severity from minimal to severe Spranger et al. 1974 , they can be indistinguishable from those of metatropic dwarfism in older children and adolescents. In fact, generalized platyspondyly, kyphoscoliosis, and anteriorly wedged vertebrae are common to both disorders. Distinctive features in metatropic dwarfism include the pelvic shape round, crescent-shaped iliac wings,...

Osteolyses

Posttraumatic Osteolysis

Progressive disappearance of bone Progressive destruction of bone may occur at several anatomical sites and in association with a number of congenital and acquired disorders. The osteolyses with predominant involvement of the ends of a limb, i.e., phalanges and carpo-tarsal bones, are discussed in Chapter 6. In the current section, the osteolytic syndromes with a more diffuse distribution are outlined, followed by a summary of the posttraumatic osteolyses. Significant overlap exists with the...

Radioulnar Synostosis

Radioulnar Fusion

Proximal fusion between radius and ulna Radioulnar synostosis is the most common congenital segmentation defect in the long bones. Two main types of radioulnar synostosis are recognized a proximal synostosis, consisting of smooth osseous fusion of 2-6 cm of the proximal segments of radius and ulna, with absent radial head and b synostosis involving the parts of the two bones just distal to the proximal radial epiphysis, with radial head dislocation Cleary and Omer 1985 Mital 1976 Bauer and...

Scalloping of the Vertebral Body

Mucolipidosis

Exaggerated concavity of the anterior or posterior surface of the vertebral body The anterior and posterior margins of the vertebral body are smoothly concave in normal individuals. An exaggeration of this concavity is referred to as scalloping of the vertebral body Mitchell et al. 1967 . The dorsal side of the vertebral body is also the anterior wall of the spinal canal. Therefore, posterior scalloping typically occurs in conditions associated with increased intradural pressure and dural...

Wide or Thickened Ribs

Rib Trabeculation Sickle Cell Anaemia

Craniodiaphyseal dysplasia in a 3-year-old boy. Ribs and clavicles are expanded and flattened Many of the conditions with broad ribs also display broad tubular bones, a subject discussed elsewhere in this book. Accordingly, these two topics share similarities with regard to the mechanisms involved in the expansion of the bones, the origin of the defect, whether it is congenital or acquired, and its distribution focal or diffuse . The discussion of this topic also overlaps with that...

Small Hypoplastic Pelvis

Inbred Facial Features

Pelvic hypoplasia itself is a nonspecific feature of several constitutional bone diseases. As such, it is of limited diagnostic value when considered alone. Nevertheless, pelvic hypoplasia is seldom 'harmonic,' as it is most commonly associated with changes in the pelvic shape that may provide important clues to the radiographic recognition of specific disorders. This section summarizes some of these configurations associated with pelvic hypoplasia. The disorders in which individual portions of...

Condensing Osteitis Chromosome

Chromosome 21 partial monosomy syndrome Chromosome 8 trisomy mosaicism syndrome Endosteal hyperostosis van Buchem, Worth Hypertrophic osteoarthropathy, secondary Melnick-Needles syndrome osteodysplasty Metaphyseal dysplasia Pyle disease Mucopolysaccharidoses I-H, I-S, III, IV,VI,VII Neoplasms, benign or malignant Oculo-dento-osseous dysplasia Osteomyelitis, chronic recurrent multifocal Periostitis, multifocal recurrent Sternocostoclavicular hyperostosis Trauma, healing phase with callus...

Metaphyseal Abnormalities

This section summarizes the characteristics of some important metaphyseal abnormalities, emphasizing the key elements for the radiographic diagnosis of various constitutional bone diseases. Minor metaphyseal abnormalities are common to a number of disorders and are therefore not very helpful in the diagnostic process. At the opposite end of the spectrum, some other metaphyseal appearances provide crucial diagnostic information. The growth plate, a structure located at both ends of the long...

Clavicles with Lateral Hooks

Handlebar Clavicles

This characteristic shape of the clavicle, involving an excessive upward convexity of its lateral portions Igual and Giedion 1979 , is a minor radiologic feature inconsistently found in a group of skeletal dysplasias and malformation syndromes Fig. 2.41 . Traditionally described in individuals with thrombo- Fig. 2.41. Osteogenesis imperfecta in a 16-year-old boy. Bilateral handlebar configuration of the clavicles and diffuse osteoporosis are apparent. The numbers refer to the measured values of...

Genu Varum

Developmental Genu Valgum

Increased distance between the knees with the legs fully extended, bowleg Genu varum is relatively common in children. Bow-leg deformity occurring in otherwise normal infants and young children is transitory in most cases, representing a physiological developmental varia- Fig. 5.29. Blount disease in a 6-year-old black girl. Note sharp inferior bending of the medial portion of the tibial metaph-ysis, sloping of the tibial epiphysis, and irregular calcification on the medial tibial margin stage...