A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

[wolf-hirschhorn syndrome]

Wolf -Hirschhorn Syndrome (WHS ) is a genetic syndrome that includes a typical facial appearance , mental retardation , growth delay , seizures , and congenital cardiac defects . A deletion of the terminal band of the short arm of chromosome 4 , with a breakpoint at the 4 p 15 to 4 p 16 region , is the most common genetic mutation causing WHS . Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects , though there are a few case reports of associated complex congenital heart disease . Here we report a case of an infant with a large 4 p deletion , with a breakpoint at the 4 p 12 region , and hypoplasic left heart syndrome . We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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