Literature DB >> 12116210

Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.

Henriette ter Heide1, Sjoerd K Bulstra, Ad Reekers, Jaap J P Schrander, Constance T R M Schrander-Stumpel.   

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. Copyright 2002 Wiley-Liss, Inc.

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Year:  2002        PMID: 12116210     DOI: 10.1002/ajmg.10441

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Orthopaedic Aspects of SAMS Syndrome.

Authors:  Dirk E Schrander; Heleen M Staal; Colin A Johnson; Alistair Calder; Neeti Ghali; Albert E Chudley; Constance T R M Stumpel
Journal:  J Pediatr Genet       Date:  2020-07-29

Review 2.  SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid.

Authors:  David A Parry; Clare V Logan; Alexander P A Stegmann; Zakia A Abdelhamed; Alistair Calder; Shabana Khan; David T Bonthron; Virginia Clowes; Eamonn Sheridan; Neeti Ghali; Albert E Chudley; Angus Dobbie; Constance T R M Stumpel; Colin A Johnson
Journal:  Am J Hum Genet       Date:  2013-11-27       Impact factor: 11.025

  2 in total

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