Open AccessEar, nose and throat manifestations in Laurence-Moon-Biedl-Bardet Syndrome
Author(s) -
Nilima Soni
Publication year - 1997
Publication title -
indian journal of otolaryngology and head and neck surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.229
H-Index - 22
eISSN - 2231-3796
pISSN - 0973-7707
DOI - 10.1007/bf03021330
Subject(s) - syndactyly , medicine , polydactyly , otorhinolaryngology , dermatology , retinitis pigmentosa , nose , pediatrics , surgery , ophthalmology , anatomy , retinal
Laurence-Moon-Biedl-Bardet Syndrome is a rare hereditary autosomal recessive disease. It is clinically characterised by a pentad of congenital defects e.g. poly or syndactyly, mental retardation, obesity, hypogenitalism and retinitis pigmentosa. Five cases of the syndrome with additional ENT features are presented. The salient features of the condition are discussed in the light of available literatures.