Gluteal Asymmetry And Newborn

Gluteal Folds Newborns

Palmar adduction cortical thumb in a normal infant. The thumbs are freely mobile but are held adducted and flexed across the palms with the fingers tightly clutched over them. Cortical thumbs are a manifestation of hypertonicity when they are present beyond the first 3 to 4 months. Constant palmar adduction or clasped thumb after this age would alert one to the possibility of central nervous system pathology. Clasped thumbs are held in a flexed and adducted position across the palm...

Prominent Occiput Infant

Osteogenesis Imperfecta Type Skull

Radiograph of an infant with metatropic dysplasia. This is another form of dwarfism associated with a narrow thorax, thoracic kyphoscoliosis and metaphyseal flaring giving the typical dumb-bell appearance . The proportion of the length of the trunk to the extremities reverses during childhood. At first the trunk is too long and the extremities too short. With increasing kyphoscoliosis the trunk becomes short. Figure 2.61. Radiograph of an infant with metatropic dysplasia. This is...

Thick Eyebrows Syndrome

Low Set Breast Microcephaly Syndrome

Close-up of face of the same infant as in Figure 3.12. Note the hirsutism, bushy eyebrows, downward slanting palpebral fissures, and micrognathia. Figure 3.14. This infant with Cornelia de Lange's syndrome shows many of the characteristic findings coarse, mop-like hair bushy eyebrows and synophrys confluent, thick eyebrows long curly eyelashes short nose with small anteverted nostrils thin lips with a small midline beak of the upper lip long philtrum and downward curving of the...

Treacher Collins Syndrome

Treacher Collins Syndrome

Close-up of the face of the same infant showing the antimongoloid slant and colobomas of the lower eyelids which typically occur at the junction of the inner two-thirds and outer third of the lower eyelids. Note the absence of eyebrows and eyelashes, the prominent nose and the hypoplasia of the zygomatic bone. Figure 3.193. A less severe case of Treacher-Collins syndrome. Note the unilateral macros-tomia and the abnormal ear. Treacher-Collins syndrome is a familial malformation...

Musculoskeletal Disorders

Microcephalic Newborns

Although some congenital musculoskeletal dysplasias are among the most obvious disorders of the neonate, they are also the most unusual. Congenital absence of all or part of a limb, deformities of the feet or hands, and lesions of the neck and trunk are rarely a diagnostic problem. The most common musculoskeletal dysplasias are among the most difficult to diagnose. Congenital hip dislocation may not be diagnosed even after repeated examination by experienced observers. Musculoskeletal...

Russell Silver Syndrome

Adult Caudal Regression Syndrome

The lower extremities of the infant show the less severe changes in that the femora, tibiae, and fibulae are hypoplastic and the feet are abnormal. Figure 3.173. This infant with Rubenstein-Taybi syndrome presented at term with a birth-weight of 2700 g and a length of 48 cm. Note the prominent forehead, hypertrichosis, downslanting palpebral fissures, epicanthic folds, long eyelashes, hypertelorism, broad nasal bridge, a beaked nose with a nasal septum extending below the alae...

Infant Umbilical Hernia

Anophthalmia

The same infant also had an omphalocele. The finding of cleft lip and palate with an omphalocele or large umbilical hernia should alert one to the possibility of the diagnosis of trisomy 13. Figure 4.17. Median cleft syndrome may be associated with chromosomal defects. This infant with tri-somy 13 had cyclops with anophthalmia. There is no proboscis present. There was arhinencephaly and alobar holoprosencephaly on CT scan. Figure 4.17. Median cleft syndrome may be associated with...

Newborn Marfan Syndrome

Marfan Syndrome Newborn

A term newborn with Marfan syndrome who had a birth weight of 3720 g and a length of 54 cm. Note the tall stature with long slim limbs and hypotonia. In Marfan syndrome, limbs are disproportionately long and trunk length is usually normal resulting in a low upper lower segment ratio. Ophthalmologic and cardiovascular pathologies, such as dislocation of the lens and aneurys-mal dilatation of the aorta, are usually noted after the neonatal period. Figure 3.98. A term newborn with...

Thrombopenia Absent Radii

Phocomelia

A close-up of the face of the same infant with the typical Potter facies associated with oligohydramnios and renal agenesis. Note the low-set abnormal ears, the flat nose, and micrognathia. Epicanthal folds were also present. Figure 1.26. Radiograph of the lower extremities of the same infant with sirenomelia shows the presence of two separate femora with fusion of soft tissue, two separate tibiae, and a single fibula distally. Skeletal deficiencies may be longitudinal defects...

Treacher Collins Treatment

Severe Brachydactyly

Frontal view of the face of the same infant as in Figure 3.108. The facial appearance resembles that of infants with Treacher-Collins syndrome. Note the partial absence of eyebrows which is another feature in these infants. Figure 3.109. Frontal view of the face of the same infant as in Figure 3.108. The facial appearance resembles that of infants with Treacher-Collins syndrome. Note the partial absence of eyebrows which is another feature in these infants. Figure 3.111....

Noonan Syndrome Infant

Noonan Syndrome

Radiograph of the skulls of the same twins as in Figure 2.72 showing the marked lack of mineralization. Figure 2.73. Radiograph of the skulls of the same twins as in Figure 2.72 showing the marked lack of mineralization. Figure 2.74. Short-limbed dwarfism in an infant with the Saldino-Noonan syndrome. This infant demonstrates the marked narrowing of the thorax with a large abdomen. The large abdomen is commonly seen in infants with a narrow thorax because the subcostal space is too...

Bilateral Bifid Fifth Toes

Arthrogryposis Multiplex Congenita

Symmetrical syndactyly of the toes in an infant with Apert's syndrome acrocephalosyndactyly . In symphalangism, no joint movement whatever is possible at the sites of the affected interphalangeal joints because the bony fusion has taken place. The absence of flexion creases is an excellent clue to the presence of this anomaly. Figure 1.127. Another example of symmetrical syndactyly of the toes in Apert's syndrome. Figure 1.127. Another example of symmetrical syndactyly of the toes...

Golden Har Sydrome In Babies

Macrostomia

In this figure of the same infant, note the contractures of the toes. Talipes equinovarus may be present. Figure 3.57. In this figure of the same infant, note the contractures of the toes. Talipes equinovarus may be present. Figure 3.58. Goldenhar's syndrome facio-auriculovertebral spectrum oculoauriculoverte-bral dysplasia is associated with abnormalities of the first and second branchial arches. This infant shows the antimongoloid slant, bilateral macrostomia, and skin tags. Over...

Caudal Regression Syndrome

Potter Facies

Radiograph of the lower extremities of the same infant. Note the abnormal development of the pelvis due to the lumbosacral agenesis, the thin, poorly developed bones and lack of muscle mass. This is due to lack of fetal movement and resulting arthrogryposis. Figure 1.14. An asymmetric form of the caudal regression syndrome and hypoplastic left lower extremity associated with hypopla-sia of muscles and sciatic nerve on the left Figure 1.14. An asymmetric form of the caudal...

Hypo Plastic Toe Nails

Turners Syndrome

Note the hypoplastic nails in the same infant with Turner's syndrome. Hypoplastic finger and toe nails are commonly noted in infants widi Turner's syndrome in that the nails are narrow, hyperconvex, and may be deep set. Figure 4.63. Note the hypoplastic nails in the same infant with Turner's syndrome. Hypoplastic finger and toe nails are commonly noted in infants widi Turner's syndrome in that the nails are narrow, hyperconvex, and may be deep set. Figure 4.64. Note the marked...