J Pediatr Genet 2014; 03(03): 167-173
DOI: 10.3233/PGE-14096
Case Report
Georg Thieme Verlag KG Stuttgart – New York

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

Alka V. Ekbote
a  Clinical Genetics Unit, Christian Medical College, Vellore, India
,
Mohan S. Kamath
b  Reproductive Medicine Unit, Christian Medical College, Vellore, India
,
Sumita Danda
a  Clinical Genetics Unit, Christian Medical College, Vellore, India
› Author Affiliations

Subject Editor:
Further Information

Publication History

07 April 2014

01 September 2014

Publication Date:
27 July 2015 (online)

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.