CRANIOMETAPHYSEAL DYSPLASIA IN 6 GENERATIONS OF A GERMAN KINDRED

Craniometaphyseal dysplasia (CMD) was found in 6 generations of a larg e German kindred; 24 affected individuals were identified. The clinica l diagnosis was confirmed by further examinations in 15 individuals, i ncluding 2 exhumed skeletons. Five deceased individuals were considere d to be undoubtedly affected by reviewing photographs, and 4 must have had CMD from genealogical considerations. Pedigree analysis was perfo rmed over 8 generations back to persons born at the beginning of the 1 8th century in a central area of Germany. The trait could be traced ba ck to a common male ancestor, born in 1790. Molecular genetic investig ations on 3 generations of this kindred are in progress. In the presen t study we describe the clinical characteristics of the family. (C) 19 98 Wiley-Liss, Inc.