Cornelia de-Lange syndrome
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 t...
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Wolters Kluwer Medknow Publications
2005-03-01
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Online Access: | http://www.bioline.org.br/request?05009 |
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doaj-e694c77695c043ba8015cf3f17e8fa032020-11-25T00:19:33ZengWolters Kluwer Medknow PublicationsJournal of Indian Society of Pedodontics and Preventive Dentistry0970-43882005-03-012313841Cornelia de-Lange syndrome Gupta DGoyal SCornelia 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.http://www.bioline.org.br/request?05009CongenitalCornelia De Lange syndromegrowth retardation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Gupta D Goyal S |
spellingShingle |
Gupta D Goyal S Cornelia de-Lange syndrome Journal of Indian Society of Pedodontics and Preventive Dentistry Congenital Cornelia De Lange syndrome growth retardation |
author_facet |
Gupta D Goyal S |
author_sort |
Gupta D |
title |
Cornelia de-Lange syndrome |
title_short |
Cornelia de-Lange syndrome |
title_full |
Cornelia de-Lange syndrome |
title_fullStr |
Cornelia de-Lange syndrome |
title_full_unstemmed |
Cornelia de-Lange syndrome |
title_sort |
cornelia de-lange syndrome |
publisher |
Wolters Kluwer Medknow Publications |
series |
Journal of Indian Society of Pedodontics and Preventive Dentistry |
issn |
0970-4388 |
publishDate |
2005-03-01 |
description |
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. |
topic |
Congenital Cornelia De Lange syndrome growth retardation |
url |
http://www.bioline.org.br/request?05009 |
work_keys_str_mv |
AT guptad corneliadelangesyndrome AT goyals corneliadelangesyndrome |
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1725371386417905664 |