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

Henriette Ter Heide, Sjoerd K. Bulstra, Ad Reekers, Jaap J P Schrander, Constance T R M Schrander-Stumpel*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)359-364
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume110
Issue number4
DOIs
Publication statusPublished - 15 Jul 2002

Keywords

  • Auditory canal atresia
  • Autosomal recessive
  • Clubfeet
  • Genital anomaly
  • Humeroscapular synostosis
  • Normal mental development
  • SAMS syndrome

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