Pena-Shokeir I Syndrome in a Newbonrn Infant.
- Author:
Myung Gil HAN
1
;
Kyu Young KIM
;
Dong Woo SON
;
Hyung Ro MOON
Author Information
1. Department of Pediatrics, Eulji Medical Center, Seoul, Korea.
- Publication Type:Original Article
- Keywords:
Pena-Shokeir I syndrome
- MeSH:
Ankylosis;
Dyspnea;
Ear;
Fetal Growth Retardation;
Humans;
Hypertelorism;
Infant*;
Infant, Newborn;
Muscle Weakness;
Polyhydramnios
- From:Journal of the Korean Pediatric Society
1997;40(5):721-725
- CountryRepublic of Korea
- Language:Korean
-
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.
