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

Am J Med Genet. 2002 Jul 15;110(4):359-64. doi: 10.1002/ajmg.10441.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Bone and Bones / abnormalities*
  • Child, Preschool
  • Clubfoot / pathology
  • Ear Canal / abnormalities*
  • Female
  • Genes, Recessive / genetics
  • Genitalia, Female / abnormalities
  • Growth Disorders / pathology*
  • Humans
  • Hyperplasia
  • Karyotyping
  • Mandible / pathology
  • Syndrome