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  • Title: Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.
    Author: Cooperstone BG, Friedman A, Kaplan BS.
    Journal: Am J Med Genet; 1993 Aug 15; 47(2):250-4. PubMed ID: 8213914.
    Abstract:
    The combination of microcephaly, gyral abnormalities, developmental delay, and a glomerulopathy constitutes a recognizable syndrome. The inheritance is autosomal recessive. Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. There is no effective treatment for the neurologic or renal manifestations of this condition. The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible.
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