A Case Report of Familial Silver-Russell Syndrome / 대한산부인과학회잡지

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.