%0 Journal Article %1 Rajab2006 %A Rajab, Anna %A Yoo, Seung-Yun %A Abdulgalil, Aiman %A Kathiri, Salem %A Ahmed, Riaz %A Mochida, Ganeshwaran H %A Bodell, Adria %A Barkovich, A. James %A Walsh, Christopher A %D 2006 %J Am J Med Genet A %K Adolescent; Cerebral Palsy; Child; Consanguinity; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Mental Retardation; Microcephaly; Oman; Pedigree; Phenotype; Syndrome %N 14 %P 1504--1510 %R 10.1002/ajmg.a.31288 %T An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. %U http://dx.doi.org/10.1002/ajmg.a.31288 %V 140 %X 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.

@article{Rajab2006, 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.}, added-at = {2014-07-19T21:07:15.000+0200}, author = {Rajab, Anna and Yoo, Seung-Yun and Abdulgalil, Aiman and Kathiri, Salem and Ahmed, Riaz and Mochida, Ganeshwaran H and Bodell, Adria and Barkovich, A. James and Walsh, Christopher A}, biburl = {https://www.bibsonomy.org/bibtex/2fa88f5a7337cf9ce5f66ac227c861d24/ar0berts}, doi = {10.1002/ajmg.a.31288}, groups = {public}, interhash = {4926cf107a1945cedcae54deec65d11e}, intrahash = {fa88f5a7337cf9ce5f66ac227c861d24}, journal = {Am J Med Genet A}, keywords = {Adolescent; Cerebral Palsy; Child; Consanguinity; Female; Genes, Recessive; Humans; Magnetic Resonance Imaging; Male; Mental Retardation; Microcephaly; Oman; Pedigree; Phenotype; Syndrome}, month = Jul, number = 14, pages = {1504--1510}, pmid = {16761294}, timestamp = {2014-07-19T21:07:15.000+0200}, title = {An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.}, url = {http://dx.doi.org/10.1002/ajmg.a.31288}, username = {ar0berts}, volume = 140, year = 2006 }