title: An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
abstract: Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous family from Oman with spastic diplegia, microcephaly, and mental retardation. Additional manifestations include hyperreflexia, clumsiness, unstable gait, drooling, and dysarthria. There was phenotypic variability among different individuals, but spastic diplegia, microcephaly, and mental retardation were three constant traits present in all affected individuals.
authors.affiliation: Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.
authors.forename: Anna
authors.initials: A
authors.lastname: Rajab
authors.forename: Seung-Yun
authors.initials: SY
authors.lastname: Yoo
authors.forename: Aiman
authors.initials: A
authors.lastname: Abdulgalil
authors.forename: Salem
authors.initials: S
authors.lastname: Kathiri
authors.forename: Riaz
authors.initials: R
authors.lastname: Ahmed
authors.forename: Ganeshwaran H
authors.initials: GH
authors.lastname: Mochida
authors.forename: Adria
authors.initials: A
authors.lastname: Bodell
authors.forename: A James
authors.initials: AJ
authors.lastname: Barkovich
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
mesh_terms: D000293:Adolescent; D002547:Cerebral Palsy / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D009850:Oman; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome