MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder

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.

Keywords

Dextrocardia - situs inversus - Klippel-Feil anomaly - hemivertebra - septate uterus - facial asymmetry