| Literature DB >> 12116210 |
Henriette ter Heide1, Sjoerd K Bulstra, Ad Reekers, Jaap J P Schrander, Constance T R M Schrander-Stumpel.
Abstract
A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome. Copyright 2002 Wiley-Liss, Inc.Entities:
Mesh:
Year: 2002 PMID: 12116210 DOI: 10.1002/ajmg.10441
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299