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

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.

The infants are stillborn or die shortly after birth. They are very short, with a length below 30 em, and flipperlike arms and legs. Hydrops is present. The head is relatively large, the face is round with chubby cheeks, the nose is short, and the mouth is small. The head sits on the shoulders without evidence of a neck. Radiographs show poorly ossified calvaria, lack of ossification of the vertebral bodies, thin ribs, often with multiple fractures, almost crescent- Fig. 3. I. 01). Infant born at 37 weeks' gestation.

The thorax is bell shaped, with long, thin ribs. The ilia are small, with a wide sacrosciatic notch. The femora are relatively long and thin, with distinctly abnormal metaphyses. (B) Patient 2. The vertebral bodies are wafer-thin, with slightly irregular contours. SHORT-RIB (-POLYDACTYLY) (SRP) SYNDROMES The nosology of the short-rib (-polydactyly) syndromes has evolved over the years and is still confusing. Polydactyly is present in many, but not in all patients. Asphyxiating thoracic dysplasia was originally not included among the SRP syndromes.

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


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