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SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities.
Am J Med Genet. 1998 Jan 23; 75(3):256-60.AJ

Abstract

We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition.

Authors+Show Affiliations

Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, Canada.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9475592

Citation

Lemire, E G., et al. "SAMS: Provisionally Unique Multiple Congenital Anomalies Syndrome Consisting of Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities." American Journal of Medical Genetics, vol. 75, no. 3, 1998, pp. 256-60.
Lemire EG, Hildes-Ripstein GE, Reed MH, et al. SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. Am J Med Genet. 1998;75(3):256-60.
Lemire, E. G., Hildes-Ripstein, G. E., Reed, M. H., & Chudley, A. E. (1998). SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. American Journal of Medical Genetics, 75(3), 256-60.
Lemire EG, et al. SAMS: Provisionally Unique Multiple Congenital Anomalies Syndrome Consisting of Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities. Am J Med Genet. 1998 Jan 23;75(3):256-60. PubMed PMID: 9475592.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. AU - Lemire,E G, AU - Hildes-Ripstein,G E, AU - Reed,M H, AU - Chudley,A E, PY - 1998/2/25/pubmed PY - 2000/6/20/medline PY - 1998/2/25/entrez SP - 256 EP - 60 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 75 IS - 3 N2 - We report on a young Mennonite child born with short stature, atresia of the external auditory canal, mandibular hypoplasia, and skeletal anomalies. The skeletal defects consist of bilateral humeral hypoplasia, delayed ossification of the pubic rami, and the previously unreported anomaly of humeroscapular synostosis. This girl is the product of a consanguineous mating. This phenotype is unique and does not match that of any previously described condition. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9475592/SAMS:_provisionally_unique_multiple_congenital_anomalies_syndrome_consisting_of_short_stature_auditory_canal_atresia_mandibular_hypoplasia_and_skeletal_abnormalities_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=75&issue=3&spage=256 DB - PRIME DP - Unbound Medicine ER -