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Diagnostic criteria for Walker-Warburg syndrome
W B Dobyns1, R A Pagon, D Armstrong
1Department of Neurology, Medical College of Wisconsin, Milwaukee 53226.
American Journal of Medical Genetics
|February 1, 1989
Summary
Walker-Warburg syndrome (WWS) is a genetic disorder causing brain and eye malformations. New findings expand WWS to include congenital muscular dystrophy and cleft lip/palate, revising diagnostic criteria for this rare condition.
Area of Science:
- Genetics
- Neurology
- Ophthalmology
Background:
- Walker-Warburg syndrome (WWS) is an autosomal recessive disorder.
- It is characterized by specific brain and eye malformations.
Observation:
- A review of 63 patients expanded the WWS phenotype.
- Congenital muscular dystrophy (CMD) and cleft lip/palate (CLP) were identified as additional manifestations.
- Four key abnormalities were consistently present: type II lissencephaly, cerebellar malformation, retinal malformation, and CMD.
Findings:
- The study proposes revised diagnostic criteria for WWS, emphasizing the four core abnormalities.
- Ventricular dilatation and anterior chamber malformations are noted as frequent but not essential criteria.
- Other observed anomalies include macrocephaly, Dandy-Walker malformation, microphthalmia, cataracts, genital anomalies, and CLP.
Implications:
- The findings refine the diagnostic criteria for WWS, improving accuracy.
- This research aids in differentiating WWS from similar genetic disorders like Fukuyama congenital muscular dystrophy.
- The expanded phenotype provides a more comprehensive understanding of WWS.