Гинекология и акушерство

Гинекология и акушерство
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ISSN: 2161-0932


A Case with Congenital Cataract, Ascitis, Ambiguous Genitilia with Hydronephrosis with Micrognathia

Anjali Rani, Madhu Jain, 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.