A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema.
We describe a sibship of three males, including monozygous twins, with cerebral and cerebellar malformations and congenital lymphedema. The parents of these children are related, being half second cousins. The clinical, radiologic and histopathologic features do not fit a previously recognized pattern. We feel this sibship represents a syndrome that has not been previously described, though it closely resembles the Walker Warburg syndrome.
Hourihane
J O
JO
Department of Pediatrics, Kent, England.
Bennett
C P
CP
Chaudhuri
R
R
Robb
S A
SA
Martin
N D
ND
D001921:Brain / Q000000981:diagnostic imaging; D002464:Cell Migration Inhibition; D002531:Cerebellum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002540:Cerebral Cortex / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003241:Consanguinity; D002658:Developmental Disabilities / Q000209:etiology; D004569:Electroencephalography; D005074:Evoked Potentials, Visual; D006801:Humans; D008209:Lymphedema / Q000151:congenital / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D011859:Radiography