Open AccessCornelia de-Lange syndrome
Author(s) -
Dr Sweta Gupta,
Sanjay Goyal
Publication year - 2005
Publication title -
journal of the indian society of pedodontics and preventive dentistry/journal of indian society of pedodontics and preventive dentistry
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.378
H-Index - 33
eISSN - 1998-3905
pISSN - 0970-4388
DOI - 10.4103/0970-4388.16026
Subject(s) - cornelia de lange syndrome , etiology , hirsutism , growth retardation , incidence (geometry) , medicine , pediatrics , pneumonia , psychiatry , pregnancy , genetics , biology , insulin resistance , physics , polycystic ovary , optics , insulin
Cornelia De Lange syndrome is a relatively uncommon, multiple congenital anomaly / mental retardation disorder of unknown etiology. Its incidence has been reported to vary from 1 : 30,000 to 1 : 50,000 of live births, without any known racial predilection. However, it has been considered to be due to a new dominant mutation. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and facial growth discrepancies. Main causes of death in such patients include pneumonia along with cardiac, respiratory and GI abnormalities.