Auditory canal atresia, humeroseapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive "SAMS" syndrome

被引:3
作者
ter Heide, H
Bulstra, SK
Reekers, A
Schrander, JJP
Schrander-Stumpel, CTRM
机构
[1] Acad Hosp Maastricht, Dept Clin Genet, NL-6201 BL Maastricht, Netherlands
[2] Maastricht Univ, Res Inst Growth & Dev, Maastricht, Netherlands
[3] Acad Hosp Maastricht, Dept Pediat, Maastricht, Netherlands
[4] Acad Hosp Maastricht, Dept Orthoped Surg, Maastricht, Netherlands
[5] Child Rehabil Ctr Franciscusoord, Valkenburg, Netherlands
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 110卷 / 04期
关键词
auditory canal atresia; humeroscapular synostosis; normal mental development; SAMS syndrome; genital anomaly; clubfeet; autosomal recessive;
D O I
10.1002/ajmg.10441
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
A second girl with the unique combination of auditory canal atresia and scapulo-humeral 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. (C) 2002 Wiley-Liss, Inc.
引用
收藏
页码:359 / 364
页数:6
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