1.
Saudi J Kidney Dis Transpl
; 28(5): 1188-1191, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28937085
RESUMO
Galloway-Mowat syndrome (GMS), also acknowledged as Microcephaly-Hiatal hernia nephrotic syndrome, is an uncommon genetic disorder inherited as an autosomal recessive trait usually seen before two years of life. It is an exceptional multisystem genetic disorder with a collection of skeletal, neurological, facial, gastrointestinal, growth, and renal abnormalities. This case report describes GMS in a girl, suffering from developmental delay, stunted growth, and various dysmorphic features, in whom nephrotic syndrome became apparent at adolescent age.