| Pena-Shokeir I Syndrome in a Newbonrn Infant |
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Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon |
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Department of Pediatrics, Eulji Medical Center, Seoul, Korea |
| 신생아에서 Pena-Shokeir I 증후군 1례 |
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한명길, 김규영, 손동우, 윤보영, 박경희, 김도현, 문형로 |
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을지중앙의료원 소아과 |
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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, 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. |
| Key Words:
Pena-Shokeir I syndrome |
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