A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
Journal of the Korean Pediatric Society
;
: 1303-1308, 1997.
Artículo
en Coreano
| WPRIM
| ID: wpr-174196
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Patología
/
Fenotipo
/
Trisomía
/
Polihidramnios
/
Diagnóstico
/
Extremidades
/
Retardo del Crecimiento Fetal
/
Anquilosis
Tipo de estudio:
Estudio diagnóstico
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1997
Tipo del documento:
Artículo
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