Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis.
The urofacial syndrome is an autosomal recessive disorder of distorted facial expression and neurogenic bladder with resultant urogenital tract damage. We report on an 8-year-old boy of consanguineous Arab parents with inverted facial expression upon laughing and renal changes as a consequence of a neurogenic bladder in addition to hydrocephalus due to stenosis of the aqueduct of Sylvius. We suggest that the association is not fortuitous and probably widens the spectrum of urofacial syndrome or represents a distinct entity mimicking the urofacial syndrome.
Teebi
A S
AS
Kuwait Medical Genetics Centre, Maternity Hospital.
Hassoon
M M
MM
D002535:Cerebral Aqueduct / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D003251:Constriction, Pathologic; D005149:Facial Expression; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology*; D007668:Kidney / Q000473:pathology; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D001750:Urinary Bladder, Neurogenic