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Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia.
Birth Defects Res A Clin Mol Teratol. 2006 Mar; 76(3):210-3.BD

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+Show Affiliations

Neonatal Surgery Unit, Department of Medical and Surgical Neonatology, Bambino Gesù Pediatric Hospital, Rome, Italy. germana.casaccia@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16498629

Citation

Casaccia, Germana, et al. "Distal 4p Microdeletion in a Case of Wolf-Hirschhorn Syndrome With Congenital Diaphragmatic Hernia." Birth Defects Research. Part A, Clinical and Molecular Teratology, vol. 76, no. 3, 2006, pp. 210-3.
Casaccia G, Mobili L, Braguglia A, et al. Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol. 2006;76(3):210-3.
Casaccia, G., Mobili, L., Braguglia, A., Santoro, F., & Bagolan, P. (2006). Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. Birth Defects Research. Part A, Clinical and Molecular Teratology, 76(3), 210-3.
Casaccia G, et al. Distal 4p Microdeletion in a Case of Wolf-Hirschhorn Syndrome With Congenital Diaphragmatic Hernia. Birth Defects Res A Clin Mol Teratol. 2006;76(3):210-3. PubMed PMID: 16498629.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distal 4p microdeletion in a case of Wolf-Hirschhorn syndrome with congenital diaphragmatic hernia. AU - Casaccia,Germana, AU - Mobili,Luisa, AU - Braguglia,Annabella, AU - Santoro,Francesco, AU - Bagolan,Pietro, PY - 2006/2/25/pubmed PY - 2006/5/24/medline PY - 2006/2/25/entrez SP - 210 EP - 3 JF - Birth defects research. Part A, Clinical and molecular teratology JO - Birth Defects Res A Clin Mol Teratol VL - 76 IS - 3 N2 - 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. SN - 1542-0752 UR - https://www.unboundmedicine.com/medline/citation/16498629/Distal_4p_microdeletion_in_a_case_of_Wolf_Hirschhorn_syndrome_with_congenital_diaphragmatic_hernia_ L2 - https://doi.org/10.1002/bdra.20235 DB - PRIME DP - Unbound Medicine ER -