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

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 de...

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Veröffentlicht in:American journal of medical genetics 2002-07, Vol.110 (4), p.359-364
Hauptverfasser: ter Heide, Henriette, Bulstra, Sjoerd K., Reekers, Ad, Schrander, Jaap J.P., Schrander‐Stumpel, Constance T.R.M.
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Sprache:eng
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Zusammenfassung: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.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.10441