Perrault Syndrome – A Rare Case Report

Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfanoid habitus and central nervous system findings h...

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Bibliographic Details
Main Authors: Sampathkumar Geethalakshmi, Veerasigamani Narendrakumar
Format: Article
Language:English
Published: JCDR Research and Publications Private Limited 2015-03-01
Series:Journal of Clinical and Diagnostic Research
Subjects:
Online Access:https://jcdr.net/articles/PDF/5641/10992_CE(Ra1)_F(GH)_PF1(NJAK)_PFA(AK)_PF2(PAG).pdf