Naidu G Diwakar, Deepthi Pathapati, RajaKarthik K, Sriram S, Swarnalatha G, Gangadhar T
Department of Nephrology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Department of Radiology, Nizam's Institute of Medical Sciences, Hyderabad, Telangana, India.
Saudi J Kidney Dis Transpl. 2017 Sep-Oct;28(5):1188-1191. doi: 10.4103/1319-2442.215154.
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.
加洛韦 - 莫瓦特综合征（GMS），也被称为小头畸形 - 食管裂孔疝肾病综合征，是一种罕见的遗传性疾病，以常染色体隐性特征遗传，通常在两岁前出现。它是一种特殊的多系统遗传性疾病，伴有一系列骨骼、神经、面部、胃肠道、生长和肾脏异常。本病例报告描述了一名患有发育迟缓、生长发育不良和各种畸形特征的女孩的GMS，该女孩在青春期出现明显的肾病综合征。
