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SAMS：一种临时认定的独特的多发性先天性异常综合征，包括身材矮小、耳道闭锁、下颌发育不全和骨骼异常。

SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.

作者信息

Lemire E G, Hildes-Ripstein G E, Reed M H, Chudley A E

机构信息

Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, Canada.

出版信息

Am J Med Genet. 1998 Jan 23;75(3):256-60. doi: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o.

DOI:10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o
PMID:9475592
Abstract

We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition.

摘要

我们报告了一名年轻的门诺派儿童，出生时身材矮小、外耳道闭锁、下颌发育不全以及骨骼异常。骨骼缺陷包括双侧肱骨发育不全、耻骨支骨化延迟，以及之前未报道过的肩胛肱关节融合异常。这个女孩是近亲结婚的产物。这种表型是独特的，与之前描述的任何病症都不相符。

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SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.SAMS：一种临时认定的独特的多发性先天性异常综合征，包括身材矮小、耳道闭锁、下颌发育不全和骨骼异常。
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引用本文的文献

1
Orthopaedic Aspects of SAMS Syndrome.SAMS综合征的骨科问题
J Pediatr Genet. 2020 Jul 29;11(1):51-58. doi: 10.1055/s-0040-1714700. eCollection 2022 Mar.
2
Neural crest contributions to the ear: Implications for congenital hearing disorders.神经嵴对耳朵的贡献：对先天性听力障碍的影响。
Hear Res. 2019 May;376:22-32. doi: 10.1016/j.heares.2018.11.005. Epub 2018 Nov 14.
3
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.
SAMS 综合征是一种由 Goosecoid 基因突变引起的独特神经嵴病变，其特征为身材矮小、听道闭锁、下颌发育不良和骨骼异常。
Am J Hum Genet. 2013 Dec 5;93(6):1135-42. doi: 10.1016/j.ajhg.2013.10.027. Epub 2013 Nov 27.