All issues > Volume 40(9); 1997

Case Report

J Korean Pediatr Soc. 1997;40(9):1303-1308. Published online September 15, 1997.

A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome

Ki Hun KH Song¹, Jee Yeon JY Song¹, In Kyung IK Sung¹, Kyong Su KS Lee¹

¹Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea

Abstract

Pena-Shokeir syndrome is a rare, often lethal disease, characterized by intrauterine growth retardation, craniofacial anomalies, limb ankylosis, polyhydramnios and pulmonary hypoplasia. This autosomal recessive disease should be differentiated from trisomy 18, which the second most common multiple congenital malformation syndrome. It is therefore clear that the two syndromes have certain features in common, the most consistent being craniofacial and limb abnormalities and intrathoracic pathology. Therefore, final diagnosis should be based on chromosome study. The case that we experienced had typical Pena-Shokeir phenotype, but chromosomal study show 47, XY, ＋18.

Keywords :Pena-Shokeir syndrome, Trisomy 18