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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03). (A,B) The thorax is broad and short. The vertebral bodies are underossified, with smooth and rounded contours. Ossification was more retarded in the original patients described by Winter and Thompson (1982). The inferior margins of the ilia are concave and the pubic bones unossified. The tubular bones are short, with only mild metaphyseal irregularities. The proximal ends of the femoral shafts are convex. Clinically, the patients resemble the other platyspondylic types, with very short limbs, hydrops, a relatively large head, and a broad and depressed nasal bridge.

In contrast to SRP I, ossification is more advanced. Note premature ossification of the capital femoral epiphyses . Chapter 1 : The Lethal Osteochondrodysplasias 43 (C) The cranium appears almost normal. The vertebral bodies are small, with irregular contours. (D) Lower limb of patient 2 from Spranger et al. (l974b), classified by some as SRP I. The bone changes are virtually identical to those in panel B and support classification of this case as SRP II. , 1987a). Our Bone Dysplasia Registries list 2 unpublished cases of SRP I and 11 cases of SRP II.

16 JOrgen Spranger and Pierre Maroteaux documented in reviews by Wiedemann et al. (1974) and Schulte et al. (1978). Radiographically, achondrogenesis 1-B differs from achondrogenesis 1-A by the lack of rib fractures, slightly better ossification of the vertebral bodies in some patients, and the globular, stellate, or triangular shape of the femora and other long bones (Fig. 2). , 1985, 1988). , 1974; Beluffi, 1977). , 1986) constitute a separate form of achondrogenesis ("pyknoachondrogenesis") or whether they are a different expression of achondrogenesis 1-B remains to be established.

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