GALLOWAY-MOWAT SYNDROME OF ABNORMAL GYRAL PATTERNS AND GLOMERULOPATHY

Citation
Bg. Cooperstone et al., GALLOWAY-MOWAT SYNDROME OF ABNORMAL GYRAL PATTERNS AND GLOMERULOPATHY, American journal of medical genetics, 47(2), 1993, pp. 250-254
Citations number
31
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
47
Issue
2
Year of publication
1993
Pages
250 - 254
Database
ISI
SICI code
0148-7299(1993)47:2<250:GSOAGP>2.0.ZU;2-G
Abstract
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.