All issues > Volume 43(1); 2000

Case Report

J Korean Pediatr Soc. 2000;43(1):128-132. Published online January 15, 2000.

A Case of Greig Cephalopolysyndactyly Syndrome

Seon Hee SH Shin¹, Je Woo JW Kim¹, Young Ah YA Lee¹, Hae Sun HS Yoon¹, Hyun Chan HC Cho²

¹Departments of Pediatrics, College of M edicine, H allym University, Seoul, Korea
²Departments of Pediatrics, College of M edicine, H allym University, Seoul, Korea

Abstract

Greig cephalopolysyndactyly syndrome(GCPS) is a disorder characterized by postaxial polydactyly of the hand, broad or occasionally bifid thumbs, preaxial polydactyly of the feet, broad halluces, syndactyly of the fingers or toes, macrocephaly, frontal bossing, hypertelorism and a broad nasal bridge. Intelligence is usually normal, although borderline IQ has been reported. Advanced bone age, mild hydrocephalus, craniosynostosis and agenesis of the corpus callosum are occasionally associated abnormalities. We report here a 10-day-old male infant with GCPS. Birth Weight was 2,400kg and gestational age was 39 wks. He had a wide broad high forehead, hypertelorism, broad nose base and cryptorchidism. He had preaxial polysyndactyly due to duplication of the right thumb and left accessory thumb, duplication of both halluces and syndactyly of both toes and fingers. His brain MRI showed corpus callosum agenesis, mild hydrocephalus and small choroid plexus cyst. High resolution chromosomal analysis showed a de novo balanced translocation 46, XY, t(7;8)(p22;q24.1). We report the first GCPS case in Korea with brief literature.

Keywords :Greig cephalopolysyndactyly syndrome, t(7;8)(p22;q24.1)