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


METHODS
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.
Casaccia
Germana
G
Neonatal Surgery Unit, Department of Medical and Surgical Neonatology, Bambino Gesù Pediatric Hospital, Rome, Italy. germana.casaccia@hotmail.com
Mobili
Luisa
L
Braguglia
Annabella
A
Santoro
Francesco
F
Bagolan
Pietro
P
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics / Q000601:surgery; D019465:Craniofacial Abnormalities / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics / Q000503:physiopathology; D013577:Syndrome