Gynecology & Obstetrics
Open Access
ISSN: 2161-0932
ISSN: 2161-0932
Anjali Rani
Institute of Medical Sciences,
Varanasi, Uttar Pradesh
India
Case Report
A Case with Congenital Cataract, Ascitis, Ambiguous Genitilia with Hydronephrosis with Micrognathia
Author(s): Anjali Rani, Madhu Jain and MamtaAnjali Rani, Madhu Jain and Mamta
A case with multiple congenital anomalies is very challenging to diagnose. We always has to keep some differential diagnosis. Here we are reporting a case with multiple congenital anomalies (congenital cataract, ascitis, micrognathia, ambiguous genitilia). It can be Smith-Lemli-Optiz Syndrome (SOLS) or syndrome or Gardner-Silengo-Wachtel syndrome. Aim of presentation is awareness of these syndrome. Some syndromes like Smith-lemli-Optiz syndrome it can be detected in pre-natal period and can be treated with cholesterol supplementation... View More»
DOI:
10.4172/2161-0932.1000272