Clinical genetics / edited by Arnold Sorsby.

Date:
1953
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Clinical genetics / edited by Arnold Sorsby. Source: Wellcome Collection.

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    OTHER GENERALIZED BONE DISEASES short stature in the relatives of Marchesani's original family. Holstein recorded the multiple incidence of the disease in several siblings, the offspring of first cousins. Cleido-cranial dysostosis Stocks and Barrington's (1925) summary of the Hterature revealed: (1) bilateral involvement of the clavicles 82*2 per cent; (2) obvious cranial vault changes such as large frontal eminences 25'5 per cent; (3) undeveloped maxihae; (4) high arched palate 43*9 per cent ; and (5) dental aberration 55 per cent. Other frequently associated defects included short stature, small face and hyperextensibiUty of the joints and flaccidity of the ligaments. Of their 144 collected cases 96 gave hereditary histories. Stocks imphed a greater tendency toward male offspring of affected males to be affected than when the mother was affected. More recent literature does not support this observation. Tatum (1934) reported dominant transmission of the trait, having observed 7 affected cases in 3 generations. An old observation of Gegenbauer (1864) showed affected offspring of an affected woman and 2 apparently normal mates. Kahlers' (1939) pedigree reported 6 generations illustrating dominant inheritance. Fitchel (1929) reported clavicular dysostosis affecting 6 cases in 3 generations. These and other pedigrees indicate that fractions or components of the syndrome may be encountered in specific famiUes. Valentin (1928) reported 14 affected cases in 4 generations (Fig. 141). The dysostosis is usually transmitted as a dominant with good penetrance and exhibits considerable variability. This variability is greater between unrelated families. The sporadic cases are assumed to be the result of mutation. Klippel-Feil syndrome The mode of inheritance is not known. Recessiveness has been suggested. Hangarter and Dieker (1938) reported a family in which many skeletal degenerations were scattered over 3 generations in addition to a sohtary case of Юippel-Feil. Jarcho and Levin (1938) reported an affected Negro brother and sister; their mother had a minor defect of the fifth cervical vertebra. Bauman (1932) described a case whose parents were normal but whose cousin and aunt were affected. Ш П t t' t't A Л A i5~Îï^3 *8 Fig. 141.—Cleido-cranial-dysostosis. Pedigree showing dominant inheritance. {After Valentin, В., and Mestern, J. (1934). Erbartzt.,1, 62.) 253