Download e-book for kindle: 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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04). (A,B) The calvaria is not ossified. The long tubular bones are short, deformed, and appear fragmented due to multiple ossification centers. Multicentric ossification is also seen in the scapulae , pelvis, facial bones, and, to a lesser degree, in the ribs. The vertebrae are less severely affected. Chapman (1989). The name " dappled diaphyseal dysplasia" was proposed by Carty et a/. (1989), who observed two additional isolated cases with this apparently autosomal recessive condition. , 1974a).

Histology shows hypercellular cartilage with large canals which contain fibrous tissue. The chondrocytes are enlarged with vacuolated cytoplasm. Cartilage matrix is deficient. , 1974). It has been suggested that achondrogenesis II (like hypochondrogenesis and spondyloepiphyseal dysplasia congenita) is caused by defective production of type II collagen (Eyre et al. , 1987). Achondrogenesis II is inherited as an autosomal recessive trait. Prenatal diagnosis should be possible by sonographic measurement of limb length.

Our Bone Dysplasia Registries list 2 unpublished cases of SRP I and 11 cases of SRP II. The difference may be caused by greater fetal loss of patients with SRP I. At birth, the patients are hydropic with a depressed nose, relatively large head, and short extremities. Crown-to-heel length varies between 34 and 48 em at term. Polydactyly was present in 6 of our II patients. 44 JOrgen Spranger and Pierre Maroteaux Absence of polydactyly has also been mentioned by Sillence et al. (1987a). The patients are stillborn or die within the first hours of life.

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


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