وثيقة
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
المعرف
DOI: 10.1002/ajmg.a.31288
المصدر
American Journal of Medical Genetics, Part A. v. 140, 14, p. 1504-1510
المساهمون
Yoo, Seung-Yun., مؤلف
Abdulgalil, Aiman., مؤلف
Kathiri, Salem., مؤلف
Ahmed, Riaz., مؤلف
Mochida, Ganeshwaran H., مؤلف
Bodell, Adria., مؤلف
Barkovich, A. James., مؤلف
Walsh, Christopher A., مؤلف
الدولة
United States.
مكان النشر
Hoboken
الناشر
Wiley
ميلادي
2006-07-15
اللغة
الأنجليزية
الملخص الإنجليزي
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.
ISSN
1552-4825
URL المصدر
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