J Korean Pediatr Soc.  1997 Sep;40(9):1303-1308.

A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome

Affiliations
  • 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.

Keyword

Pena-Shokeir syndrome; Trisomy 18

MeSH Terms

Ankylosis
Diagnosis
Extremities
Fetal Growth Retardation
Pathology
Phenotype*
Polyhydramnios
Trisomy*
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