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 "mental retardation" symptom

achondroplasia

alexander disease

alpha-thalassemia

aniridia

aromatase deficiency

canavan disease

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

cystinuria

dentin dysplasia

familial hypocalciuric hypercalcemia

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated