β Scribed by Tinschert, Sigrid; Braun, Hans-Steffen
No coin nor oath required. For personal study only.
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.
π SIMILAR VOLUMES
We present the clinical and radiographic findings in a patient with the autosomal recessive form of craniometaphyseal dysplasia (CMD). The changes from infancy to the age of 17 years are illustrated and discussed. Am.
We describe a large inbred kindred from a remote area of Pakistan, comprising eight generations, with a distinct form of spondyloepimetaphyseal dysplasia (SEMD). We evaluated 16 affected individuals: 11 males and 5 females. Analysis of the pedigree strongly suggests autosomal recessive inheritance,
SUMMARY: When the newly promoted captain of the NYPSD and his wife return a day early from their vacation, they were looking forward to spending time with their bright and vivacious sixteen-year-old daughter who had stayed behind. Not even their worst nightmares could have prepared them for the crim