Document Detail


Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
MedLine Citation:
PMID:  16498629     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Wolf-Hirschhorn syndrome (WHS) is a well-known genetic condition characterized by typical facial anomalies, midline defects, skeletal anomalies, prenatal and postnatal growth retardation, hypotonia, mental retardation, and seizures. Affected patients with a microdeletion on distal 4p present a milder phenotype that lacks congenital malformations. WHS is rarely associated with congenital diaphragmatic hernia (CDH), and only 8 cases are reported in the literature. In almost all cases of CDH and WHS a large deletion of the short arm of chromosome 4 is present. CASE: A microdeletion of 2.6 Mb on distal 4p associated with CDH and multiple congenital malformations (i.e., cleft palate) is reported for the first time. CONCLUSIONS: Such a microdeletion should prompt a molecular study for WHS when in a fetus/newborn with CDH the association with cleft lip/palate and typical facial appearance (flat facial profile, hypertelorism) is found.
Authors:
Germana Casaccia; Luisa Mobili; Annabella Braguglia; Francesco Santoro; Pietro Bagolan
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Birth defects research. Part A, Clinical and molecular teratology     Volume:  76     ISSN:  1542-0752     ISO Abbreviation:  Birth Defects Res. Part A Clin. Mol. Teratol.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-03-23     Completed Date:  2006-05-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101155107     Medline TA:  Birth Defects Res A Clin Mol Teratol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  210-3     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Affiliation:
Neonatal Surgery Unit, Department of Medical and Surgical Neonatology, Bambino Gesù Pediatric Hospital, Rome, Italy. germana.casaccia@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Chromosome Deletion*
Chromosomes, Human, Pair 4 / genetics*
Cleft Palate / genetics,  surgery
Craniofacial Abnormalities / genetics
Female
Gestational Age
Hernia, Diaphragmatic / congenital,  genetics*
Humans
Infant, Newborn
Mental Retardation / genetics
Pregnancy
Psychomotor Disorders / genetics,  physiopathology
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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