Document Detail

Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
MedLine Citation:
PMID:  16498629     Owner:  NLM     Status:  MEDLINE    
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.
Germana Casaccia; Luisa Mobili; Annabella Braguglia; Francesco Santoro; Pietro Bagolan
Related Documents :
9655319 - Congenital erosive and vesicular dermatosis healing with reticulated supple scarring: r...
18060199 - Erythrokeratodermia variabilis - variant with circumscribed variable erythema and perio...
8275569 - Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and assoc...
16854769 - Birth characteristics of different ocular congenital abnormalities in hungary.
19337779 - Malformations of the midbrain and hindbrain: a retrospective study and review of the li...
12420129 - Diverticular enlargement of the foramina of luschka and congenital hydrocephalus.
9329429 - Necrotizing fasciitis after plastibell circumcision.
1458799 - Ankylosing spondylitis and sarcoidosis--coincidence or association? case report and rev...
12960619 - A 50-year experience with bone graft epiphysiodesis in the treatment of slipped capital...
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.
Neonatal Surgery Unit, Department of Medical and Surgical Neonatology, Bambino Gesù Pediatric Hospital, Rome, Italy.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abnormalities, Multiple / genetics*
Chromosome Deletion*
Chromosomes, Human, Pair 4 / genetics*
Cleft Palate / genetics,  surgery
Craniofacial Abnormalities / genetics
Gestational Age
Hernia, Diaphragmatic / congenital,  genetics*
Infant, Newborn
Mental Retardation / genetics
Psychomotor Disorders / genetics,  physiopathology

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

Previous Document:  HLXB9 homeobox gene and caudal regression syndrome.
Next Document:  A novel role of phospholipase A2 in mediating spinal cord secondary injury.