Literature DB >> 9475592

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

E G Lemire1, G E Hildes-Ripstein, M H Reed, A E Chudley.   

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.

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Year:  1998        PMID: 9475592     DOI: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o

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


  3 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.  Neural crest contributions to the ear: Implications for congenital hearing disorders.

Authors:  K Elaine Ritter; Donna M Martin
Journal:  Hear Res       Date:  2018-11-14       Impact factor: 3.208

Review 3.  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

  3 in total

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