Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.
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.
Cooperstone
B G
BG
Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania 19104.
Friedman
A
A
Kaplan
B S
BS
D000015:Abnormalities, Multiple / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000235:genetics; D013577:Syndrome