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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.AJ

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.

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Authors+Show Affiliations

ter Heide H
Department of Pediatrics, Academic Hospital Maastricht, Maastricht, The Netherlands.
Bulstra SK
No affiliation info available
Reekers A
No affiliation info available
Schrander JJ
No affiliation info available
Schrander-Stumpel CT
No affiliation info available

MeSH

Abnormalities, MultipleBone and BonesChild, PreschoolClubfootEar CanalFemaleGenes, RecessiveGenitalia, FemaleGrowth DisordersHumansHyperplasiaKaryotypingMandibleSyndrome

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12116210

Citation

ter Heide, Henriette, et al. "Auditory Canal Atresia, Humeroscapular Synostosis, and Other Skeletal Abnormalities: Confirmation of the Autosomal Recessive "SAMS" Syndrome." American Journal of Medical Genetics, vol. 110, no. 4, 2002, pp. 359-64.
ter Heide H, Bulstra SK, Reekers A, et al. Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome. Am J Med Genet. 2002;110(4):359-64.
ter Heide, H., Bulstra, S. K., Reekers, A., Schrander, J. J., & Schrander-Stumpel, C. T. (2002). Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome. American Journal of Medical Genetics, 110(4), 359-64.
ter Heide H, et al. 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. PubMed PMID: 12116210.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome. AU - ter Heide,Henriette, AU - Bulstra,Sjoerd K, AU - Reekers,Ad, AU - Schrander,Jaap J P, AU - Schrander-Stumpel,Constance T R M, PY - 2002/7/13/pubmed PY - 2002/10/31/medline PY - 2002/7/13/entrez SP - 359 EP - 64 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 110 IS - 4 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/12116210/Auditory_canal_atresia_humeroscapular_synostosis_and_other_skeletal_abnormalities:_confirmation_of_the_autosomal_recessive_"SAMS"_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=110&issue=4&spage=359 DB - PRIME DP - Unbound Medicine ER -