Summary
Anencephaly and/or spina bifida has been observed in 5 of 8 children from 2 related families. The fathers of both families were brothers and had married 2 sisters. By further investigation they could be shown to be third degree cousins to their marriage partners. No malformations were known among further relatives. The family pattern suggests autosomal recessive inheritance of anencephalus and/or spina bifida in this family, although it could not be excluded, that genetically determined intrauterine factors were of importance.
Zusammenfassung
In 2 verwandten Familien einer Sippe hatten 5 von 8 Kindern Anencephalie und/oder Meningocele. Die Väter beider Familien waren Brüder, die Mütter Schwestern. Das Studium der Kirchenbücher ergab, daß die Ehepartner außerdem Vettern und Basen dritten Grades waren. Weder den Eltern noch dem Hausarzt waren bei weiteren Verwandten Fehlbildungen ähnlicher oder anderer Art bekannt. Der Stammbaum macht autosomal-recessiven Erbgang der Schulßstörung des Neuralrohres in dieser Familie sehr wahrscheinlich, es kann jedoch nicht mit voller Sicherheit ausgeschlossen werden, daß erblich bedingte intrauterine Faktoren entscheidend waren.
References
Carter, C. O., Fraser Roberts, J. A.: The risk of recurrence after two children with centralnervous-system malformations. Lancet 1967 I, 306.
Horne, H. W.: Anencephaly in four consecutive pregnancies. Fertil. and Steril. 9, 67 (1958).
Penrose, L. S.: Genetics of anencephaly. J. ment. Defic. Res. 1, 4–15 (1957).
Polman, A.: Anencephaly, spina bifida and hydrocephaly (quoted by Stevenson et al., 1966). Genetica 25, 29 (1950).
Stevenson, A. C., Johnston, H. A., Stewart, Patricia M. I., Goulding, D. R.: Congenital Malformations. A Report of a study of series of consecutive births in 24 centres. Suppl. to Vol. 34 of the Bulletin of the WHO, Geneva (1966).
Williamson, E. M.: Incidence and family aggregation of major congenital malformations of central nervous system. J. med. Genet. 2, 161 (1965).
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Fuhrmann, W., Seeger, W. & Böhm, R. Apparently monogenic inheritance of anencephaly and spina bifida in a kindred. Humangenetik 13, 241–243 (1971). https://doi.org/10.1007/BF00326949
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DOI: https://doi.org/10.1007/BF00326949