A Case with Congenital Cataract, Ascitis, Ambiguous Genitilia with Hydronephrosis with Micrognathia
Anjali Rani*, Madhu Jain, Mamta
Institute of Medical Sciences, Varanasi, Uttar Pradesh, India
- *Corresponding Author:
- Anjali Rani
Institute of Medical Sciences
Varanasi, Uttar Pradesh, India
E-mail: [email protected]
Received Date: January 09, 2015; Accepted Date: February 11, 2015; Published Date: February 13, 2015
Citation: Rani A, Jain M, Mamta (2015) A Case with Congenital Cataract, Ascitis, Ambiguous Genitilia with Hydronephrosis with Micrognathia.Gynecol Obstet (Sunnyvale) 5:272. doi: 10.4172/2161-0932.1000272
Copyright: © 2015 Rani A. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.