MURCS and thenar hypoplasia |
| |
Authors: | Gardner R J McKinlay Umstad Mark P Hale Lyndon G |
| |
Affiliation: | Genetic Health Services Victoria, Royal Women's Hospital, Melbourne, Australia. mac.gardner@ghsv.org.au |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|