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

✍ Scribed by ter Heide, Henriette ;Bulstra, Sjoerd K. ;Reekers, Ad ;Schrander, Jaap J.P. ;Schrander-Stumpel, Constance T.R.M.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 240 KB
Volume: 110
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10441

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✦ Synopsis

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. © 2002 Wiley‐Liss, Inc.

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

✍ Lemire, Edmond G.; Hildes-Ripstein, G. Elske; Reed, Martin H.; Chudley, Albert E 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 30 KB 👁 2 views

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 humerosc