A Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
Journal of Genetic Medicine
;
: 93-97, 2012.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Coluna Vertebral
/
Anormalidades Congênitas
/
Cartilagem
/
Fissura Palatina
/
Tecido Conjuntivo
/
Colágeno Tipo II
/
Parto
/
Nanismo
/
Plagiocefalia
/
Perda Auditiva
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2012
Tipo de documento:
Artigo
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