Craniometaphyseal dysplasia in six generations of a German kindred

Autor:	Hans-Steffen Braun, Sigrid Tinschert
Rok vydání:	1998
Předmět:	Family investigation Biology medicine.disease Osteochondrodysplasia Genealogy language.human_language German Craniometaphyseal dysplasia Clinical diagnosis language Trait medicine Genetics (clinical) Ancestor
Zdroj:	American Journal of Medical Genetics. 77:175-181
ISSN:	1096-8628 0148-7299
DOI:	10.1002/(sici)1096-8628(19980518)77:3<175::aid-ajmg1>3.0.co;2-p
Popis:	Craniometaphyseal dysplasia (CMD) was found in 6 generations of a large German kindred; 24 affected individuals were identified. The clinical diagnosis was confirmed by further examinations in 15 individuals, including 2 exhumed skeletons. Five deceased individuals were considered to be undoubtedly affected by reviewing photographs, and 4 must have had CMD from genealogical considerations. Pedigree analysis was performed over 8 generations back to persons born at the beginning of the 18th century in a central area of Germany. The trait could be traced back to a common male ancestor, born in 1790. Molecular genetic investigations on 3 generations of this kindred are in progress. In the present study we describe the clinical characteristics of the family.
Databáze:	OpenAIRE
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