Download e-book for iPad: Advances in Human Genetics by Jürgen Spranger, Pierre Maroteaux (auth.), Harry Harris,

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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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 .

About one-third of the patients are stillborn; the others die within the first hours of life. Radiographs show better calvarial ossification than in achondrogenesis I. The vertebrae are underossified, with almost complete absence of the vertebral bodies and arches in some patients and less severe retardation in most. The iliac bones are small, with concave inner and inferior margins. The pubic bones are invariably and the ischial bones mostly 18 Darwin J. Prockop et at. Fig. 4. 04). (A,B) Severe manifestations.

The tubular bones are short, with relatively thick, bowed shafts and flared metaphyses. The proximal portions of the femora are oval shaped and less dense than the shafts. (B) The vertebral bodies are flat, with central indentations of the upper and lower plates. Thin tongues of ossified tissue 24 Jurgen Spranger and Pierre Maroteaux project anteriorly from the lower thoracic bodies. (C) In this patient, the neurocranium is grossly enlarged, but does not have the trilobar configuration of a cloverleaf skull.

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

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