Joubert syndrome with peripheral dysostosis: A case report of long term follow-up / 소아과
Korean Journal of Pediatrics
;
: 315-318, 2007.
Article
in English
| WPRIM
| ID: wpr-198439
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Reference Values
/
Skull
/
Ventilation
/
Magnetic Resonance Imaging
/
Follow-Up Studies
/
Dysostoses
/
Eye Movements
/
Facial Bones
/
Brachydactyly
/
Foot
Type of study:
Observational study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2007
Type:
Article
Similar
MEDLINE
...
LILACS
LIS