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

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

ISBN-10: 1475790651

ISBN-13: 9781475790658

ISBN-10: 1475790678

ISBN-13: 9781475790672

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Case 2 of Slomic and Dorval (1977) survived for 3 months. Radiographs show horizontal and short ribs. The bodies of the cervical vertebrae are not ossified, and those of the thoracic, lumbar, and sacral spine are insufficiently ossified. The iliac wings are small and the pubic bones are unossified. The tubular bones are shortened, frequently with squared ends and small metaphyseal spurs (Fig. 5). , 1977; Maroteaux et al. , 1983). Electron microscopy shows a distended endoplasmic reticulum, which contains finely granulated material.

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. 03 Case 2 reported by Kozlowski et al. (1981) and a patient published by Koide et al. (1983) resemble other forms of achondrogenesis in many respects, including the defective ossification of the vertebrae, pubic, and ischial bones. Both patients were markedly hydropic with flipperlike limbs.

03). (A,B) The ribs are short and horizontally oriented. Their medial portions are thin and the lateral ends are markedly splayed. Ossification of the vertebral bodies is deficient. The ilia are small, with a stellate appearance and widely separated from the ischial bones. The tubular bones are short, broad, and grossly undermodeled, with smooth and rounded ends. The humeri are distally pointed. Note hydrops. some cases classified as type II by Kozlowski et al. (1977) or as type IV by Whitley and Gorlin (1983) may in fact have had hypochondrogenesis.

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


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