Figure 2.16. Radiograph of die upper and lower extremities showing the stippling of the epiphyses of an infant with chondrodystrophia calcificans congenita. This may occur as a rhizomelic form with a flat facies, low nasal bridge and cataracts, short humeri and femora, coronal clefts in the vertebrae, and punctate epiphyseal mineralization. It also occurs in an autosomal dominant form (Conradi-Hunermann syndrome) in which there is asymmetric limb shortness and early punctate epiphyseal mineralization. In infants with stippling of the epiphyses, consideration should also be given to the diagnoses of Zellweger syndrome and the fetal warfarin syndrome.
Figure 2.17. Radiograph of the neck in the same infant showing the characteristic stippling at the hyoid bone and the spine.
Figure 2.18. In this infant with cleidocranial dysplasia, an autosomal dominant condition, the shoulders clinically appear normal. They may present with hanging narrow shoulders, pectus excava-tum, and abnormal shoulder movement due to the bilateral absence of the clavicles. In any infant with wide open sutures and fontanelles or wormian bones on clinical examination of the skull, one should always check the clavicles to exclude the diagnosis of cleidocranial dysostosis.
Figure 2.19. The same infant as in Figure 2.18 with cleidocranial dysplasia showing the approximation of the shoulders in front of the chest due to the absence of the clavicles. These infants present with other findings. Aplasia or defective development of the clavicles and laxity of the ligaments allow the forward folding of the shoulders. Defective mineralization of other parts of the skeleton may occur.
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