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

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

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Patients with hypochondrogenesis are born after a gestation of usually more than 36 weeks. Their length varies between 36 and 43 em and their weight between 1800 and 3600 g. Arms and legs are disproportionately short, and the relatively large head sits almost on the shoulders. The face is oval, flat , and "oriental" in appearance, with widely spaced, slanted eyes. Most patients have a cleft palate and clubfeet. They are hypotonic, frequently listless, and in respiratory distress. Death occurs from respiratory failure within hours or days.

This histologic appearance of the epiphysis and growth plate is different. 04 Platyspondylic Chondrodysplasia, Shiraz Type A lethal chondrodysplasia with marked metaphyseal changes was reported by Sedaghatian (1980) from Shiraz, Iran. Analysis of the original films shows flattened vertebrae and this "congenital lethal metaphyseal dysplasia" is best listed with other platyspondylic bone dysplasias (Fig. 4). Clinically, the original patient had a flat nose, micrognathia, and small chest. His length at birth was 49 em.

Its eponyms derive from the publications of Langer et al. , 1974). , 1985). It has been subdivided into a severe and a mild form [achondrogenesis II and IV according to Kozlowski et al. (1977), and achondrogenesis III and IV according to Whitley and Gorlin (1983)]. Though heterogeneity of achondrogenesis II cannot be ruled out, analysis of Saldino' s cases shows distinct intrafamilial variability. Mild cases of achondrogenesis II may be difficult to differentiate from hypochondrogenesis (compare Figs.

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