MURCS and thenar hypoplasia.
We describe the case of a woman with some features of the MURCS (Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia) association, along with a radial ray anomaly. She had fusion of two cervical vertebrae, and a unicornuate uterus as MURCS components; and thenar muscle hypoplasia and absent radial pulses reflecting radial ray elements. We review two similar cases from the literature. We discuss whether our case might represent an incomplete and variant form of the MURCS association, or an example of an overlap between the MURCS and VATER (vertebral, anal, tracheo-esophageal, radial) associations.
Gardner
R J McKinlay
RJ
Genetic Health Services Victoria, Royal Women's Hospital, Melbourne, Australia. mac.gardner@ghsv.org.au
Umstad
Mark P
MP
Hale
Lyndon G
LG
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006225:Hand / Q000473:pathology; D006801:Humans; D011859:Radiography