Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.

Abstract

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
• Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol) Vol. 76 Issue 3 Pg. 210-3 (Mar 2006) ISSN: 1542-0752 [Print] United States
• PMID: 16498629 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2006 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Chromosome Deletion
• Chromosomes, Human, Pair 4 (genetics)
• Cleft Palate (genetics, surgery)
• Craniofacial Abnormalities (genetics)
• Female
• Gestational Age
• Hernia, Diaphragmatic (genetics)
• Hernias, Diaphragmatic, Congenital
• Humans
• Infant, Newborn
• Intellectual Disability (genetics)
• Pregnancy
• Psychomotor Disorders (genetics, physiopathology)
• Syndrome