A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies

1 May 1986

journal article
research article
Published by Wiley in American Journal of Medical Genetics

Vol. 24 (1) , 119-126
https://doi.org/10.1002/ajmg.1320240114

Abstract

We report on the occurrence of a new syndrome of upper limb hypoplasia and Müllerian duct anomalies in a French Canadian family. Limb/acral anomalies varied in expression from postaxial polydactyly to ectrodactyly to severe upper limb hypoplasia with split hand. Genital anomalies varied in expression from only a vaginal septum to complete duplication of uterus and vagina in the female to a micropenis in one of two affected males. The syndrome appears to be inherited as an autosomal dominant trait.

Keywords

This publication has 8 references indexed in Scilit:

Acro‐renal‐mandibular syndrome
American Journal of Medical Genetics, 1980
Müllerian Aplasia with Hypoplastic Thumbs: Two Case Reports
International Journal of Gynecology & Obstetrics, 1979
A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears
Teratology, 1974
Severe developmental failure with coarse facialfeatures, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: A previously unidentified familial disorder with lethal outcome
The Journal of Pediatrics, 1971
The hand-foot-uterus syndrome: A new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract
The Journal of Pediatrics, 1970
A familial syndrome of renal, genital, and middle ear anomalies
The Journal of Pediatrics, 1968
Hydrometrocolpos as a Simply Inherited Malformation
JAMA, 1964
Our genetical ‘load’. A review of some aspects of genetical variation
Annals of Human Genetics, 1962