All issues > Volume 40(5); 1997

Case Report

J Korean Pediatr Soc. 1997;40(5):721-725. Published online May 15, 1997.

Pena-Shokeir I Syndrome in a Newbonrn Infant

Myung Gil MG Han¹, Kyu Young KY Kim¹, Dong Woo DW Son¹, Bo Young BY Yoon¹, Kyung Hee KH Park¹, Do Hyun DH Kim¹, Hyung Ro HR Moon¹

¹Department of Pediatrics, Eulji Medical Center, Seoul, Korea

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.

Keywords :Pena-Shokeir I syndrome