A Case of Pena-Shokeir Phenotype in Trisomy 18 Syndrome
Journal of the Korean Pediatric Society
; : 1303-1308, 1997.
Article
in Ko
| WPRIM
| ID: wpr-174196
Responsible library:
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.
Key words
Full text:
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Index:
WPRIM
Main subject:
Pathology
/
Phenotype
/
Trisomy
/
Polyhydramnios
/
Diagnosis
/
Extremities
/
Fetal Growth Retardation
/
Ankylosis
Type of study:
Diagnostic_studies
Language:
Ko
Journal:
Journal of the Korean Pediatric Society
Year:
1997
Type:
Article