A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
Journal of the Korean Pediatric Society
; : 1303-1308, 1997.
Article
em Ko
| WPRIM
| ID: wpr-174196
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Patologia
/
Fenótipo
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Trissomia
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Poli-Hidrâmnios
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Diagnóstico
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Extremidades
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Retardo do Crescimento Fetal
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Anquilose
Tipo de estudo:
Diagnostic_studies
Idioma:
Ko
Revista:
Journal of the Korean Pediatric Society
Ano de publicação:
1997
Tipo de documento:
Article