title: Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.
abstract: 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.
authors.affiliation: Department of Clinical Genetics, City Hospital, Nottingham.
authors.forename: I D
authors.initials: ID
authors.lastname: Young
authors.forename: P A
authors.initials: PA
authors.lastname: McKeever
authors.forename: M V
authors.initials: MV
authors.lastname: Squier
authors.forename: J
authors.initials: J
authors.lastname: Grant
mesh_terms: 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