Rare Diseases Symptoms Automatic Extraction

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 presenting "hydrocephalus" symptom

  • achondroplasia
  • alexander disease
  • canavan disease
  • congenital toxoplasmosis
  • harlequin ichthyosis
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • krabbe disease
  • monosomy 21
  • proteus syndrome
  • severe combined immunodeficiency
  • sneddon syndrome
  • von hippel-lindau disease
  • wiskott-aldrich syndrome

This symptom has already been validated