Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.
We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.
Lapunzina
P
P
Department of Genetics, Hospital La Paz, Madrid, Spain.
Delicado
A
A
de Torres
M L
ML
Mor
M A
MA
Pérez-Pacheco
R F
RF
Lópes
Pajares I
PI
D000328:Adult; D002535:Cerebral Aqueduct / Q000002:abnormalities*; D003251:Constriction, Pathologic / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006849:Hydrocephalus / Q000000981:diagnostic imaging* / Q000209:etiology; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal