Document Detail


Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome.
MedLine Citation:
PMID:  12116210     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Henriette ter Heide; Sjoerd K Bulstra; Ad Reekers; Jaap J P Schrander; Constance T R M Schrander-Stumpel
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  110     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2002 Jul 
Date Detail:
Created Date:  2002-07-12     Completed Date:  2002-10-25     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  359-64     Citation Subset:  IM    
Copyright Information:
Copyright 2002 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Academic Hospital Maastricht, Maastricht, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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