Pena-Shokeir I Syndrome in a Newbonrn Infant
Journal of the Korean Pediatric Society
;
: 721-725, 1997.
Article
in Korean
| WPRIM
| ID: wpr-165854
ABSTRACT
Pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorism, depressed tip of nose), polyhydramnios, fetal growth retardation & pulmonary hypoplasia which are inherited by autosomal recessive trait. We experienced 1 case of Pena-Shokeir I syndrome in a neonate (41 weeks, 2.08Kg). This patient suffered from dyspnea. Respiratory destress was not relieved after ventilatory care. He died aged 10 days. We report this case with brief review of literature.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polyhydramnios
/
Muscle Weakness
/
Dyspnea
/
Ear
/
Fetal Growth Retardation
/
Hypertelorism
/
Ankylosis
Limits:
Humans
/
Infant
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
1997
Type:
Article
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