| Autor: |
Casaccia, Germana, Mobili, Luisa, Braguglia, Annabella, Santoro, Francesco, Bagolan, Pietro |
| Zdroj: |
Birth Defects Research Part A: Clinical and Molecular Teratology; March 2006, Vol. 76 Issue: 3 p210-213, 4p |
| Abstrakt: |
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.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.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. |
| Databáze: |
Supplemental Index |
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