All issues > Volume 38(9); 1995

Case Report

J Korean Pediatr Soc. 1995;38(9):1293-1298. Published online September 15, 1995.

Arthrogryposis Multiplex Congenita in Siblings

Kyoung Hee KH Choi¹, Jeong Ah JA Park¹, Kyoung Sim KS Kim¹, Ki Bok KB Kim¹

¹Department of Pediatrics, Kwangju, Chiristian Hospital, Jwangju, Korea

Abstract

Arthrogryposis multiplex congenita is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Most cases are sporadic, although rare cases of familial recurrence are reported worldwide. Recently, we experienced 2 cases of arthrogryposis multiplex congenita in a family (a brother and a sister). They were born with micrognathia, low set ears, broad and short neck, hemangioma, cleft palate and multiple joint deformities of extremities. The occurrence of the syndrome in 2 siblings of different sex suggests autosomal recessive inheritance.

Keywords :Arthrogryposis multiplex congenita, Autosomal recessive inheritance