A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
Journal of Genetic Medicine
;
: 93-97, 2012.
Article
Dans Anglais
| WPRIM
| ID: wpr-137164
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Rachis
/
Malformations
/
Cartilage
/
Fente palatine
/
Tissu conjonctif
/
Collagène de type II
/
Parturition
/
Nanisme
/
Plagiocéphalie
/
Perte d'audition
Limites du sujet:
Humains
langue:
Anglais
Texte intégral:
Journal of Genetic Medicine
Année:
2012
Type:
Article
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