Advances in Human Genetics by Jürgen Spranger, Pierre Maroteaux (auth.), Harry Harris,

By Jürgen Spranger, Pierre Maroteaux (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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5. 05). (A,B) The ribs are short and horizontal with splayed anterior ends. The bodies of the cervical vertebrae are not ossified. The synchondrosis between the exoccipital and the supraoccipital portions of the occipital bone is wide. In the thoracolumbar spine the vertebral bodies are small with diminished vertical diameters and sagittal clefts in most. The iliac wings are slightly shortened in their vertical dimensions . The pubic bones are not ossified . The tubular bones are shortened, but well modeled .

Sibs with identical bone changes have been published by Nairn and Chapter 1 : The Lethal Osteochondrodysplasias 13 Fig. 4. 04). (A,B) The calvaria is not ossified. The long tubular bones are short, deformed, and appear fragmented due to multiple ossification centers. Multicentric ossification is also seen in the scapulae , pelvis, facial bones, and, to a lesser degree, in the ribs. The vertebrae are less severely affected. Chapman (1989). The name " dappled diaphyseal dysplasia" was proposed by Carty et a/.

The nasal bridge is depressed and the chin is small. Radiographic examination shows very short ribs, small, round vertebral bodies with irregular contours and structure, small ilia without a distinct trident shape of their lower margins, and severely underossified, streaklike tubular bones with pointed ends. Bone structure is amorphous (Fig. 1). Autopsy shows a varying combination of primary and secondary malformations, including pulmonary hypoplasia, complex heart defects, a short, malrotated gut, cloacal defects with anal and/or urethral atresia, ambiguous genitalia, renal aplasia or hypoplasia, double uterus, absence of the gallbladder or pancreatic head, and cysts of the pancreas, liver and kidney.

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