Auditory canal atresia,humeroscapular synostosis,and other skeletal abnormalities: Confirmation of the autosomal recessive “SAMS” syndrome |
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| Authors: | Henriette ter Heide Sjoerd K. Bulstra Ad Reekers Jaap J.P. Schrander Constance T.R.M. Schrander‐Stumpel |
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| Affiliation: | 1. Department of Pediatrics, Academic Hospital Maastricht, Maastricht, The Netherlands;2. Department of Orthopedic Surgery, Academic Hospital Maastricht, Maastricht, The Netherlands;3. Child Rehabilitation Center Franciscusoord, Valkenburg, The Netherlands |
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| 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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| Keywords: | auditory canal atresia humeroscapular synostosis normal mental development SAMS syndrome genital anomaly clubfeet autosomal recessive |
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