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Case Report

Pena-Shokeir I Syndrome in a Newbonrn Infant

Myung Gil Han, Kyu Young Kim, Dong Woo Son, Bo Young Yoon, Kyung Hee Park, Do Hyun Kim, Hyung Ro Moon

Clin Exp Pediatr. 1997;40(5):721-725. Published online May 15, 1997

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...

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