| Joubert syndrome with peripheral dysostosis
- A case report of long term follow-up - |
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Jung Tae Kim1, Sun Jun Kim2, Chan-Uhng Joo2, Soo Chul Cho2, Dae-Youl 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 |
| 말초 이골증을 동반한 Joubert Syndrome 1례 |
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김정태1, 김선준2, 주찬웅2, 조수철2, 이대열2 |
1전북대학교 의과대학 소아과학교실
2전북대학교 의과대학 소아과학교실, 임상의학연구소 |
Correspondence:
Sun Jun Kim, Email: sunjun@chonbuk.ac.kr
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| Abstract |
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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. |
| Key Words:
Joubert syndrome , Peripheral dysostosis , Brachydactyly , Short stature |
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