A Case of the Roberts SC Syndrome at the 17 Weeks of Gestational  Age.

Kim, K H; Lee, K H; Park, M C; Sohn, J H; Lee, Y W

Case Report

Korean Journal of Obstetrics & Gynecology 1999;42(5):1138-1141.
Published online January 1, 2001.

A Case of the Roberts SC Syndrome at the 17 Weeks of Gestational Age.

K H Kim, K H Lee, M C Park, J H Sohn, Y W Lee

Abstract

Roberts SC syndrome was initially described by Roberts in 1919 and more recently by Appelt et al. It`s transmitted as an autosomal recessive condition. Approximately 80 percent of affected individuals have had premature separation of centrometric heterochromatin of many chromosome. Affected persons have varying degrees of malformations involving symmetric reduction in the number of digits, and length or presence of bones in the arms and legs. Craniofascial malformations involve hypertelorism, hypoplastic thin nares, and a high incidence of cleft lip and palate. Prenatal sonographic findings associated with Robert SC syndrome have been reported and included large-for-dates biparietal diameter, hydrocephalus, proptosis, chest perimeter below the fifth percentile for gestational age, oligohydramnios, and long bones below the fifth percentile. A case of Roberts SC syndrome, diagnosed antenatally by ultrasound at the 17 weeks of pregnancy and confirmed by autopsy, is presented with a brief review of literatures.

Key Words: Roberts SC syndrome, Premature separation of centrometric heterochromatin, Extremities and craniofascial malformation