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 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.
ter Heide
Henriette
H
Department of Pediatrics, Academic Hospital Maastricht, Maastricht, The Netherlands.
Bulstra
Sjoerd K
SK
Reekers
Ad
A
Schrander
Jaap J P
JJ
Schrander-Stumpel
Constance T R M
CT
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D003025:Clubfoot / Q000473:pathology; D004424:Ear Canal / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005836:Genitalia, Female / Q000002:abnormalities; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D006965:Hyperplasia; D007621:Karyotyping; D008334:Mandible / Q000473:pathology; D013577:Syndrome