A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome.
- Author:
Ki Hun SONG
1
;
Jee Yeon SONG
;
In Kyung SUNG
;
Kyong Su LEE
Author Information
1. Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Pena-Shokeir syndrome;
Trisomy 18
- MeSH:
Ankylosis;
Diagnosis;
Extremities;
Fetal Growth Retardation;
Pathology;
Phenotype*;
Polyhydramnios;
Trisomy*
- From:Journal of the Korean Pediatric Society
1997;40(9):1303-1308
- CountryRepublic of Korea
- Language:Korean
-
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.
