A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
Journal of Genetic Medicine
;
: 93-97, 2012.
Article
in English
| WPRIM
| ID: wpr-137161
ABSTRACT
Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene (OMIM +120140) mapped to chromosome 12q13.11. Type II collagen, a molecule found mostly in the cartilage and vitreous tissues, is essential for the normal development of bones and other connective tissues. Kniest syndrome is a type II collagenopathy that presents as skeletal abnormality associated with disproportionate dwarfism, kyphoscoliosis, enlarged joints, visual loss, hearing loss, and cleft palate. This report describes a Korean patient with Kniest syndrome who was diagnosed with typical clinical features and radiologic findings. The patient presented with disproportionately short stature and kyphoscoliosis from birth. A skeletal survey revealed fused lamina in the thoracic spine, hemivertebrae, flexion deformities in multiple joints, and plagiocephaly.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spine
/
Congenital Abnormalities
/
Cartilage
/
Cleft Palate
/
Connective Tissue
/
Collagen Type II
/
Parturition
/
Dwarfism
/
Plagiocephaly
/
Hearing Loss
Limits:
Humans
Language:
English
Journal:
Journal of Genetic Medicine
Year:
2012
Type:
Article
Similar
MEDLINE
...
LILACS
LIS