All issues > Volume 50(3); 2007

Case Report

Korean J Pediatr. 2007;50(3):315-318. Published online March 15, 2007.

Joubert syndrome with peripheral dysostosis - A case report of long term follow-up -

Jung Tae JT Kim¹, Sun Jun SJ Kim², Chan-Uhng CU Joo², Soo Chul SC Cho², Dae-Youl DY Lee²

¹Department of Pediatrics, Chonbuk National University Medical School, Jeonju, Jeonbuk, Korea
²Department of Pediatrics, Institute for Medical Science, Chonbuk National University Medical School, Jeonju, Jeonbuk, Korea

Correspondence Sun Jun SJ Kim ,Email: sunjun@chonbuk.ac.kr

Abstract

This report describes the long-term follow-up of a 10-year-old female patient with Joubert syndrome with short stature and brachydactyly. She presented with hyperpnea alternated with hypopnea, uncontrolled jerking eye movements, and hypotonia during early infancy. She was diagnosed with Joubert syndrome based on clinical symptoms and typical MRI findings at 5 months of age. Abnormal ventilation and eye movements disappeared at around 4 years of age. Head circumference kept within normal range for her age, but her height and weight growth were markedly retarded. Simple X-ray showed an enlarged skull with increased digital markings, hypoplasia of facial bones, and abnormal enchondral bone formations in hands and feet. This article is the first report of Joubert syndrome with peripheral dysostosis.

Keywords :Joubert syndrome , Peripheral dysostosis , Brachydactyly , Short stature