Late-onset growth restriction in Galloway-Mowat syndrome: A case report

Lin Kang, Pao-Lin Kuo, Ko Hung Lee, Yu Chuan Liu, Chiung-Hsin Chang, Fong Ming Chang, Shio Jean Lin

研究成果: Article

7 引文 斯高帕斯(Scopus)

摘要

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. Growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. Nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction.

原文English
頁(從 - 到)159-162
頁數4
期刊Prenatal Diagnosis
25
發行號2
DOIs
出版狀態Published - 2005 二月 1

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

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