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.
MeSH
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_
DB - PRIME
DP - Unbound Medicine
ER -