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

✍ Scribed by Germana Casaccia; Luisa Mobili; Annabella Braguglia; Francesco Santoro; Pietro Bagolan

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 70 KB
• Volume: 76
• Category: Article
• ISSN: 1542-0752
• DOI: 10.1002/bdra.20235

✦ Synopsis

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. Birth Defects Research (Part A), 2006. © 2006 Wiley‐Liss, Inc.