Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.
This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia/atrophy.
Young
I D
ID
Department of Clinical Genetics, City Hospital, Nottingham.
McKeever
P A
PA
Squier
M V
MV
Grant
J
J
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003286:Contracture / Q000151:congenital; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D008844:Micrognathism / Q000235:genetics* / Q000473:pathology; D009849:Olivopontocerebellar Atrophies / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D006831:Polyhydramnios; D011247:Pregnancy; D011296:Prenatal Diagnosis