1887
Volume 2000, Issue 2
  • ISSN: 0253-8253
  • E-ISSN: 2227-0426

ملخص

A Qatari boy presented at birth with muscular weakness and was diagnosed as a case of Walker Warburg syndrome (WWS) on the basis of muscular dystrophy, eye abnormalities and brain anomalies. This is believed to be the first case of WWS reported from the Arab countries. Other similar muscular dystrophies associated with brain anomalies are described and discussed.

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References

  1. Pagon RA, Clarren SK, Milam DF Jr, Hendrickson AE. Autosomal recessive eye and brain anomalies: Warburg syndrome. J Pediatr. 1983; 102::542546.
    [Google الباحث العلمي]
  2. Ayme S, Mattei J-F. HARD( ± E) syndrome: report of a sixth family with support for autosomal recessive inheritance. Am J Med Genet. 1983; 14::759766.
    [Google الباحث العلمي]
  3. Chemke J, Czernobilsky B, Mundel G, Barishak YR. A familial syndrome of central nervous system and ocular malformations. Clin Genet. 1975; 7::17.
    [Google الباحث العلمي]
  4. Hung NA, Silver MM, Chitayet D, Provious J, Toi A, Tay V, Becker LE, Pediatric Dev pathology. 1998; 1:5:393404.
    [Google الباحث العلمي]
  5. Bordarier C, Aicardi J, Goutieres F. Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome. Ann Neurol. 1984; 16::6065.
    [Google الباحث العلمي]
  6. Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. Am J Neuroradiol. 1998; 19::13891396.
    [Google الباحث العلمي]
  7. Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL. Syndromes with lissencephaly. II: Walker-Warburg and cerebro-oculo-muscular syndromes and a new syndrome with Type II lissencephaly. Am J Med Genet. 1985; 22::157195.
    [Google الباحث العلمي]
  8. Toda T, Segawa M, Nomura Y, et al., Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q 31-33. Nat Genet. 1993; 5::283286.
    [Google الباحث العلمي]
  9. Corman B, Avela K, Pihko H, et al., Assignment of the muscle-eye-brain disease gene to Ip32-p34 by linkage analysis and homozygosity mapping. Am J Hum Genet. 1999; 64::126135.
    [Google الباحث العلمي]
  10. Teebi A, Talaat F, Genetic disorders among Arab population; Oxford Univerisity Press. 1997; 7:139142.
    [Google الباحث العلمي]
  11. Valanne L, Pihko H, Katevuo K, Karttunen P, Somer H, Santavuori P. MRI of the brain in Muscle-Eye-Brain (MEB) disease. Neuroradiology. 1994; 36::473476.
    [Google الباحث العلمي]
  12. Van der Knaap MS, Smit LM, Barth PG, et al., Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol. 1997; 42:1:5059.
    [Google الباحث العلمي]
  13. Aicardi J. The agyria-pachygyria complex: a spectrum of cortical malformations. Brain Dev. 1991; 13::18.
    [Google الباحث العلمي]
/content/journals/10.5339/qmj.2000.2.23
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  • نوع المستند: Case Report
الموضوعات الرئيسية Fukuyama Muscular Dystrophy (FMD)Muscle-Eye-Brain Disease (MEB)Muscular Dystrophy (MD) and Walker Warburg Syndrome (WWS)

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