By Jürgen Spranger, Pierre Maroteaux (auth.), Harry Harris, Kurt Hirschhorn (eds.)
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Additional resources for Advances in Human Genetics
Infant born at 37 weeks' gestation. The skull is poorly ossified. There is total lack of ossification of the vertebral bodies. In the thoracic spine, ossification centers are seen in the pedicles. The ribs are thin with multiple fractures. The ilia are short in their vertical diameters and crescent shaped . Ischial and pubic bones are unossified. The tubular bones are very short, but tubulated. In this film, the right fibula is faintly seen as a short , thick structure . Chapter 1 : The Lethal Osteochondrodysplasias 15 shaped, short ilia, and very short, but longitudinally oriented tubular bones.
The metacarpals and proximal phalanges show some diaphyseal modeling. Longitudinal spurs of bone extend from the medial and lateral segments of the distal radial and ulnar metaphyses. (C) The vertebral bodies are small, with irregular upper and lower plates and a flocked bone structure . 46 JOrgen Spranger and Pierre Maroteaux Chondroosseous morphology of the case of Belloni and Beluffi (1981) showed cartilage tongues extending from the growth plate into the metaphyses as in SRP I and 11, but better columnization than these disorders.
The Chapter 1: The Lethal Osteochondrodysplasias 19 tubular bones are short and broad, with flared and cupped metaphyseal margins. (C,D) Moderately severe manifestations. This case shows all the characteristics of achondrogenesis II, but ossification is more advanced than in the first patient. (E,F) The bone changes in this patient are even milder than in the second patient and could also be classified as severe hypochondrogenesis. unossified. The long bones are shortened, but tubulated with metaphyseal cupping and moderate lateral bowing of the femora in severe cases.
Advances in Human Genetics by Jürgen Spranger, Pierre Maroteaux (auth.), Harry Harris, Kurt Hirschhorn (eds.)