SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities

E G Lemire; G E Hildes-Ripstein; M H Reed; A E Chudley

doi:10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o

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. doi: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o.

Authors

E G Lemire¹, G E Hildes-Ripstein, M H Reed, A E Chudley

Affiliation

¹ Department of Pediatrics and Child Health, University of Manitoba and Health Sciences Centre, Winnipeg, Canada.

PMID: 9475592
DOI: 10.1002/(sici)1096-8628(19980123)75:3<256::aid-ajmg5>3.0.co;2-o

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Bone and Bones / abnormalities*
Bone and Bones / diagnostic imaging
Child
Ear Canal / abnormalities*
Female
Growth Disorders / congenital*
Growth Disorders / genetics*
Growth Disorders / pathology
Humans
Mandible / abnormalities*
Radiography
Syndrome