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

Pena-Shokeir I Syndrome in a Newbonrn Infant

• Han MG
• Kim KY
• Son DW
• Moon HR

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.

Keyword

Pena-Shokeir I syndrome

MeSH Terms

Ankylosis
Dyspnea
Ear
Fetal Growth Retardation
Humans
Hypertelorism
Infant*
Infant, Newborn
Muscle Weakness
Polyhydramnios