A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies.
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.
Halal
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F
D000293:Adolescent; D000328:Adult; D001132:Arm / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005836:Genitalia, Female / Q000002:abnormalities*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009095:Mullerian Ducts; D010375:Pedigree; D011859:Radiography; D013577:Syndrome