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Cleidocranial dysplasia
91%
2198/2409
Renal osteodystrophy
2%
60/2409
Spondyloepiphyseal dysplasia tarda
5%
117/2409
Hypothyroidism
1%
14/2409
Bilateral slipped capital femoral epiphyses
0%
5/2409
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The clinical presentation and radiographs are consistent with cleidocranial dysplasia, which is an autosomal dominant form of proportionate dwarfism. The radiographs in Figure A show clavicle dysmorphism. The pelvic radiographs in Figure B shows failure of the pubic symphysis to ossify and distinctive lateral notching of the capital femoral epiphysis. Cleidocranial dysplasia primarily involves bones formed by intramembranous ossification such as facial bones, cranium, and clavicles. The result is failure of formation of midline structures, such as the clavicle and pubic symphysis. Additional clinical features include growth retardation, craniofacial abnormalities, scoliosis, and developmental coxa vara or coxa valga. The reference by Richie et al discusses management options for hip conditions associated with cleidocranial dysplasia. Spondyloepiphyseal dysplasia tarda presents with coxa vara but generally with non-ossified capital femoral epiphyses. Although the radiographs might be confused with SCFE, clavicle dysmorphism is not associated with SCFE. Hypothyroidism can lead to bilateral SCFE or a bilateral LCP type picture, but again is not characterized by clavicle dysmorphism. Renal osteodystrophy would present with bones suggestive of osteomalacia and abnormalities of the epiphysis.
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