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KMID : 0367419970400050721
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Journal of Korean Pediatric Society
1997 Volume.40 No. 5 p.721 ~ p.725
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Pena-Shokeir I Syndrome in a Newbonrn infant
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한명길
김규영/손동우/윤보영/박경희/김도현/문형로
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Abstract
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pena-Shokeir I syndrome is a multiple malformation syndrome displaying characteristics of camptodactyly, multiple ankylosis, severe muscle weakness, facial anomalies (low set ears, hypertelorisn, 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.
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