Document Detail


Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
MedLine Citation:
PMID:  23188044     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generally raised after school age, when visual disturbances lead to CRD diagnosis and to VPS13B gene testing. This relatively late diagnosis precludes accurate genetic counselling. The aim of this study was to analyse the evolution of CS facial features in the early period of life, particularly before school age (6 years), to find clues for an earlier diagnosis. Photographs of 17 patients with molecularly confirmed CS were analysed, from birth to preschool age. By comparing their facial phenotype when growing, we show that there are no special facial characteristics before 1 year. However, between 2 and 6 years, CS children already share common facial features such as a short neck, a square face with micrognathia and full cheeks, a hypotonic facial appearance, epicanthic folds, long ears with an everted upper part of the auricle and/or a prominent lobe, a relatively short philtrum, a small and open mouth with downturned corners, a thick lower lip and abnormal eye shapes. These early transient facial features evolve to typical CS facial features with aging. These observations emphasize the importance of ophthalmological tests and neutrophil count in children in preschool age presenting with developmental delay, hypotonia and the facial features we described here, for an earlier CS diagnosis.
Authors:
Salima El Chehadeh-Djebbar; Edward Blair; Muriel Holder-Espinasse; Anne Moncla; Anne-Marie Frances; Marlène Rio; François-Guillaume Debray; Patrick Rump; Alice Masurel-Paulet; Nadège Gigot; Patrick Callier; Laurence Duplomb; Bernard Aral; Frédéric Huet; Christel Thauvin-Robinet; Laurence Faivre
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-11-28
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jul 
Date Detail:
Created Date:  2013-06-13     Completed Date:  2013-11-04     Revised Date:  2014-07-01    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  736-42     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple
Child
Child, Preschool
Developmental Disabilities / diagnosis,  genetics,  physiopathology
Early Diagnosis
Face / physiopathology*
Female
Fingers / abnormalities,  physiopathology
Humans
Intellectual Disability / diagnosis*,  genetics*,  physiopathology
Male
Microcephaly / diagnosis*,  genetics*,  physiopathology
Muscle Hypotonia / diagnosis*,  genetics*,  physiopathology
Mutation
Myopia / diagnosis*,  genetics*,  physiopathology
Obesity / diagnosis*,  genetics*,  physiopathology
Phenotype
Vesicular Transport Proteins / genetics*
Chemical
Reg. No./Substance:
0/VPS13B protein, human; 0/Vesicular Transport Proteins
Comments/Corrections

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