All issues > Volume 35(2); 1992

Case Report

J Korean Pediatr Soc. 1992;35(2):282-285. Published online February 15, 1992.

A Case of Beals Syndrome

Sung Kee SK Park¹, Tae Woo TW Kim¹, Young Soo YS Baik¹, Chang Yeon CY Lee¹, Suk S Kang¹, Moon Jib MJ Yoo¹, Jae Hwy JH Lee¹, Moon Whan MW Im¹

¹Department of Pediatrics, Dongguk University Pohang Hospital, Pohang, Korea

Abstract

Beals syndrome, congenital contractural arachnodactyly (CCA), is an autosomal dominant disorder of connective tissue sharing many of the clinical manifestations of Marfan's syndrome, characterized by congenital joint contractures, crumpled ears, arachnodactyly (dolichostenomelia), kyphoscoliosis, and autosomal dominant inheritance. Differential diagnosis of CCA includes Marfan syndrome, Achard syndrome, homocystinuria, osteogenesis imperfecta, Stickler syndrome, and arthrogryposis multiplex congenita. Especially, the major consideration is Marfan syndrome because of the difference in prognosis. We experienced a case of CCA in 1 year-old girl with congenital multiple joint contracutres, crumpled ears, arachnoddactyly, dolichostenomelia, and mild scoliosis. A brief review of literature was done.

Keywords :Congenital Contractural Arachnodactyly, Beals Sydrome