X-linked inheritance of Dandy-Walker variant.
We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait.
Wakeling
Emma L
EL
Kennedy-Galton Centre, North West London Hospitals NHS Trust, Harrow, Middlesex, UK. e.wakeling@ic.ac.uk
Jolly
Matthew
M
Fisk
Nicholas M
NM
Gannon
Caroline
C
Holder
Susan E
SE
D000328:Adult; D003388:Cranial Fossa, Posterior / Q000002:abnormalities / Q000000981:diagnostic imaging; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics*; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D010375:Pedigree; D014463:Ultrasonography; D014960:X Chromosome