Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.
作者信息
Elliott A M, Roeder E R, Witt D R, Rimoin D L, Lachman R S
机构信息
International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California, USA.
出版信息
Am J Med Genet. 2000 Dec 18;95(5):496-506. doi: 10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e.
Abstract
We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.
摘要
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