AMERICAN JOURNAL OF MEDICAL GENETICS, vol.76, no.5, pp.410-414, 1998 (Journal Indexed in SCI)
Article / Article
Title of Journal :
AMERICAN JOURNAL OF MEDICAL GENETICS
lethal chondrodysplasia, platyspondyly metaphyseal dysplasia, Sedaghatian dysplasia, AR inheritance, LETHAL METAPHYSEAL CHONDRODYSPLASIA
We present the radiological findings in two unrelated cases with spondylometaphyseal dysplasia type Sedaghatian. We review the literature and identify additional anomalies including disproportionately long fibulae, dysharmonious maturation and turricephaly. (C) 1998 Wiley-Liss, Inc.