Bilateral macrostomia associated with aqueductal stenosis and glial heterotopias.

[hydrocephalus with stenosis of the aqueduct of sylvius]

We report on an Italian boy , born to normal and nonconsanguineous parents with a prenatal diagnosis of ventriculomegaly and subependymal glial heterotopias . At birth bilateral macrostomia was diagnosed without other evident facial anomalies . Magnetic resonance imaging (MRI ) showed triventricular hydrocephalus and aqueductal stenosis and confirmed the nodules of glial heterotopia . The bilateral macrostomia was surgically corrected with the vermilion square flap method and W-plasty technique and follow up MRI at 6 months showed mild increase of ventricular dilatation without signs of active hydrocephalus . The association between macrostomia and hydrocephalus has been reported only in rare cases of complex malformative syndromes but never with isolated macrostomia .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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