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 "seizures" symptom

alexander disease

alpha-thalassemia

cadasil

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

cowden syndrome

erdheim-chester disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

legionellosis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

phenylketonuria

proteus syndrome

pyruvate dehydrogenase deficiency

scrub typhus

sneddon syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

This symptom has already been validated