Spondylometaphyseal dysplasia: further heterogeneity.
The spondylometaphyseal dysplasias are a very heterogeneous group of disorders. Only one has been clearly defined, namely, the spondylometaphyseal dysplasia--Kozlowski type, known also as the "common type." This disorder is inherited as an autosomal dominant trait. In this report we describe an Arabic-Moslem kindred with spondylometaphyseal dysplasia, not of the common type, with an autosomal dominant mode of inheritance, indicating further heterogeneity.
Borochowitz
Z
Z
Genetics Institute, Haifa Medical Center, Israel.
Berant
M
M
Kristal
H
H
D000328:Adult; D002648:Child; D005006:Ethnicity; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007514:Islam; D007557:Israel / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography