Craniometaphyseal dysplasia in six generations of a German kindred.
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.
Tinschert
S
S
Institute of Medical Genetics, School of Medicine (Charité), Humboldt University, Berlin, Germany.
Braun
H S
HS
D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005190:Family; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000000981:diagnostic imaging; D005858:Germany; D006801:Humans; D015576:Hyperostosis / Q000000981:diagnostic imaging / Q000235:genetics; D006972:Hypertelorism / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D010375:Pedigree; D011859:Radiography; D012598:Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging