Affiliations: Clinical Genetics Unit, Christian Medical College, Vellore, India | Reproductive Medicine Unit, Christian Medical College, Vellore, India
Note: [] Corresponding author: Dr. Alka V. Ekbote, MD, Clinical Genetics Unit, Christian Medical College OT Block, 5th Floor, Vellore, India. Tel.: +91 9655937959; Fax: +91 4162211196; E-mail: [email protected]
Abstract: We are reporting a female patient with a MURCS association (Müllerian duct aplasia, unilateral renal agenesis, cervico-thoracic somite fusion defects), situs inversus totalis, short stature with normal development and intelligence. We are presenting the comparison with two other patients published with similar finding. Our patient is distinct in having all the characteristic features and represents the severe spectrum of this disorder. We present our argument favoring this to be a monogenic syndrome distinct from the other two entities and probably a ciliopathy.
