A Case Report of Familial Silver-Russell Syndrome.

Ko, Hyun Sun; Kim, Youn Hee; Ahn, Hyun Young; Park, In Yang; Lee, Young; Kim, Sa Jin; Shin, Jong Chul; Kim, Soo Pyung

Obstet Gynecol Sci > Volume 47(10); 2004 > Article

Case Report

Korean Journal of Obstetrics & Gynecology 2004;47(10):2001-2005.
Published online: October 1, 2004

A Case Report of Familial Silver-Russell Syndrome.

Hyun Sun Ko, Youn Hee Kim, Hyun Young Ahn, In Yang Park, Young Lee, Sa Jin Kim, Jong Chul Shin, Soo Pyung Kim

Department of Obstetrics and Gynecology, College of Medicine, Catholic University of Korea.

Abstract

The Silver-Russell syndrome (SRS) is characterized by severe asymmetric intrauterine growth restriction, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism and asymmetry are considered typical features of the syndrome, although the range of phenotypic variance is unknown. There is no definite known etiology of SRS. Most cases occur sporadically with no previous family history. However, there are rare occurrences where SRS is present in more than one member of a family. We report a case of familial Silver-Russell syndrome with literatures.

Keywords: Familiar Silver-Russell syndrome; Asymmetric intrauterine growth restriction