A "new" epi-metaphyseal skeletal dysplasia in four members of a family.
In this report we present the clinical and radiological findings of an epimetaphyseal skeletal dysplasia affecting four members of the same family. Autosomal dominant inheritance with almost identical expression in all affected patients is documented. In addition to axial deviations of the lower limbs they all present coxarthrosis at young age, disproportionate short stature, identical facial stigmata and typical anomalies of hands and feet.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
De Bisschop
F
F
Van den Berghe
H
H
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D010375:Pedigree; D011859:Radiography