Bg. Cooperstone et al., GALLOWAY-MOWAT SYNDROME OF ABNORMAL GYRAL PATTERNS AND GLOMERULOPATHY, American journal of medical genetics, 47(2), 1993, pp. 250-254
The combination of microcephaly, gyral abnormalities, developmental de
lay, and a glomerulopathy constitutes a recognizable syndrome. The inh
eritance is autosomal recessive. Additional abnormalities may include
seizures, minor facial anomalies, and hiatal hernia. Onset of proteinu
ria 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 fo
und. There is no effective treatment for the neurologic or renal manif
estations of this condition. The prognosis is extremely poor; every pa
tient but one has died before age 5 1/2 years. Antenatal diagnosis may
be possible. (C) 1993 Wiley-Liss, Inc.