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Cornelia de Lange Syndrome: description of the orofacial features and case report

Type:  Articles

Pubblication date:  /4/2008

Authors:  M.G. Guadagni, N. Cetrullo, G. Piana

Language:  English

Institution:  Special Care Patient Unit, Department of Dental Sciences Alma Mater Studiorum - University of Bologna, Italy

Publication:  European Journal of Paediatric Dentistry

Publisher:  Ariesdue Srl

Keywords:  Cornelia de Lange Syndrome, Severe mental delay, Orofacial malformation.

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Email:  [email protected]

Title:  Cornelia de Lange Syndrome: description of the orofacial features and case report

Abstract:  Background Cornelia de Lange Syndrome (CdLS) is a very rare syndrome characterised by multiple congenital anomaly affecting various organs and severe mental retardation. Incidence has been reported to be 1: 10.000-20.000 among the general population, with no racial predilection. The aetiology is still unknown but researchers, in 2004, discovered a mutation of the NIPBL gene located on chromosome 5 which is considered to be responsible of the disease. The main clinical features of the syndrome regard distinctive facial features, severe growth retardation, developmental and mental delay, hirsutism, structural limb abnormalities. The authors describe the main features of the syndrome focusing on oral and facial malformations and report a case of a three years old patient with CdLS.

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