Coneshaped Epiphyses

► [Conical epiphyses, each with its apex set into the metaphyseal ends of the phalanges]

Epiphyseal coning can be an isolated phalangeal variation devoid of any clinical significance or an important marker of a selected group of systemic disorders. Cones are more common in Japan than in the United States, and in girls than in boys (Hertzog et al. 1968; de Iturriza and Tanner 1969). Shortening of the involved bone - not always related to premature fusion of the epiphysis - is often associated (Fig. 6.43). Cone-shaped epiphyses can occur in both hands and feet. An association with ivory epiphyses is well established. Varying degrees of severity are recognized, ranging from minimal indentation on the metaphysis to fully developed cones extending deep into the phalangeal diaphysis. Location of the cones can be of diagnostic importance. Specifically, while the presence of cone-shaped epiphyses at the distal phalanx of the thumb and middle phalanx of the 5th finger is often insignificant, when they are located at the proximal phalanges and at the middle phalanges of fingers 3 and 4 this usually suggests a malformation syndrome. The shape of the cone is also of some diagnostic value. Giedion identified 38 different types of cone-shaped epiphysis (Giedion 1967), some of which occur in otherwise normal individuals whereas others are virtually pathog-nomonic for specific disorders. For example, type 37

Epiphyses Cone

Fig. 6.43. Isolated cone-shaped epiphyses in a 13-year-old boy. Observe cone-shaped epiphysis at the base of the 1st metacarpal, with distal pseudoepiphysis and metacarpal shortening. There is also some shortening of the 4th and 5th metacarpals and ivory epiphyses in the middle phalanges. This boy was otherwise normal

Fig. 6.43. Isolated cone-shaped epiphyses in a 13-year-old boy. Observe cone-shaped epiphysis at the base of the 1st metacarpal, with distal pseudoepiphysis and metacarpal shortening. There is also some shortening of the 4th and 5th metacarpals and ivory epiphyses in the middle phalanges. This boy was otherwise normal mesophalangeal cones are found in Ellis-van Creveld syndrome (OMIM 225500), whereas type 12 mesopha-langeal cones are seen in tricho-rhino-phalangeal syndrome, type I (OMIM 190350) (Fig. 6.44a-f, Fig. 6.45) and type II (Langer-Giedion syndrome, OMIM 150230),in association with shortening of one or more phalanges and/or metacarpals, small stature, sparse hair of fine texture, and prominent nose. Multiple cartilaginous exostoses, microcephaly, mental retardation, and dysplastic ears are distinguishing features of type II. Occasionally a characteristic „flattened half-moon" shape is seen in this type of tricho-rhino-pha-langeal syndrome (Fig. 6.46).A third type of tricho-rhi-no-phalangeal syndrome (Sugio-Kajii syndrome, OMIM 190351) is now recognized, in which the cardinal manifestations of the other forms (sparse hair, pear-shaped nose, and cone-shaped epiphyses) are found in association with severe generalized shortening of all phalanges and metacarpals in the absence of mental deficiency and cartilaginous exostoses (Sugio and Kajii 1984; Niikawa and Kamei 1986). Occasionally, cones indistinguishable from those of the tricho-rhino-phalangeal syndromes occur in pseudo-pseudo-hypoparathyroidism (PPHP, OMIM 300800). Type 24 cones in the distal row and types 19 and 20 in the middle row are specific for cleidocranial dysplasia (OMIM 119600), while type 22 in the distal phalanx of the thumb is typical for oto-palato-digital syndrome, type I (OMIM 311300) and type 35, for acrodysostosis (OMIM 101800). In metaphyseal chondrodyspla-

Mainzer Saldino Syndrome

Fig. 6.44 a-f. Tricho-rhino-phalangeal dysplasia, type 1. Fe- 2 months. Note typical type-12 mesophalangeal cone as it male patient (same case as in Part 2, Fig. 107.2B) at the ages of evolves over time in this longitudinal observation. Observe ala 2 years and 5 months; b 6 years and 8 months; c 7 years and so ivory epiphysis at the base of the distal phalanx. (From 10 months; d 10 years and 2 months; e 12 years; f 15 years and Giedion 1998)

Fig. 6.44 a-f. Tricho-rhino-phalangeal dysplasia, type 1. Fe- 2 months. Note typical type-12 mesophalangeal cone as it male patient (same case as in Part 2, Fig. 107.2B) at the ages of evolves over time in this longitudinal observation. Observe ala 2 years and 5 months; b 6 years and 8 months; c 7 years and so ivory epiphysis at the base of the distal phalanx. (From 10 months; d 10 years and 2 months; e 12 years; f 15 years and Giedion 1998)

Saldino Mainzer Syndrome

Fig. 6.47. Metaphyseal chondrodysplasia, McKusick type, in a boy aged 14 years and 5 months. Note characteristic flattened half-moon cone-shaped epiphyses in the middle phalanges. Also note 'fat' or 'sausage-shaped' epiphyses of the proximal phalanges, ivory epiphyses in the distal phalanges, and metaphyseal irregularities at the distal radius. (From Giedion 1998)

Fig. 6.46. Tricho-rhino-phalangeal dysplasia, type 2 in a boy aged 14 years and 7 months. Cone-shaped epiphysis reminiscent of the 'flattened half-moon' is recognized in the mesopha-lanx of the 4th finger. Minute exostoses, typical of the disorder, and distal ivory epiphyses are also seen. (From Giedion 1998)

Fig. 6.47. Metaphyseal chondrodysplasia, McKusick type, in a boy aged 14 years and 5 months. Note characteristic flattened half-moon cone-shaped epiphyses in the middle phalanges. Also note 'fat' or 'sausage-shaped' epiphyses of the proximal phalanges, ivory epiphyses in the distal phalanges, and metaphyseal irregularities at the distal radius. (From Giedion 1998)

sia, McKusick type (cartilage hair hypoplasia, OMIM 250250) the 'flattened half-moon' or 'hat-like' shape is recognized in the mesophalangeal cones (Fig. 6.47) (Giedion 1998). Despite this remarkable specificity, recognition of the cones may not be beneficial because the characteristic shape often does not appear until infancy and early childhood are past, which is too late for a diagnostic marker of a genetic disorder to be very useful. Mainzer-Saldino syndrome (cono-renal syndrome, OMIM 266920) is an association of cone-shaped phalangeal epiphyses of the hands and chronic renal failure. Retinitis pigmentosa and ataxia are additional manifestations (Mainzer et al. 1970; Giedion 1979). Peripheral dysostosis (OMIM 170700) involves essentially the tubular bones of the hands and feet. There is marked brachy-dactyly and widespread phalangeal cone-shaped epiphyses. The disorder resembles acrodysostosis and is probably a variable expression of the same disorder. Paucity of signs and symptoms other than those in the hands, and specifically the absence of pug nose, open mouth and prognathism, and mental deficiency, clearly differentiates peripheral dysostosis from acrodysostosis (Singleton et al. 1960). In the rare metaphyseal acroscyphodysplasia (OMIM 250215), cones occur not only in the phalangeal and metacarpal epiphyses of the hands, but also - and most typically - at the knees. Micromelia, growth retardation, and severe brachydactyly are additional manifestations (Bellini et al. 1984).

Changes in the epiphyseal shape so that they resemble true cones may occur after injuries to the epiphyseal-metaphyseal unit. Example include fracture, osteomyelitis, bone infarction, and radiation therapy. Severe metaphyseal cupping with cone-shaped epi-physes primarily affecting rapidly growing long bones has been reported in a girl treated with 13-cis-retinoic acid (Nishimura et al. 1997).

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