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Kniest Dysplasia in a Girl Aged 6 Years

PETRÁŠOVÁ, Š., ZEMKOVÁ, D., MAŘÍK, I., MORTIER, G. R., KOZLOWSKI, K. Kniest Dysplasia in a Girl Aged 6 Years. Journal of Rare Disorders: Diagnosis & Therapy, 2016, roč. 2, č. 1:37, s. 1-6. ISSN: 2380-7245
Jazyk publikace: eng
Anglický název: Kniest Dysplasia in a Girl Aged 6 Years
Rok vydání: 2016
Autoři: Mgr. Šárka Petrášová , RNDr. Daniela Zemková , Prof. MUDr. Ivo Mařík CSc. , Geer R Mortier , Kazimierz Kozlowski
Abstrakt EN: We report clinical, radiological and anthropological findings from the first Czech patient with Kniest dysplasia whose radio-clinical diagnosis was confirmed by DNA studies. Kniest dysplasia is an inherited disorder associated with defects in type of collagen II with specific clinical and characteristic radiographic findings. Our affected girl had dysmorphic and radiographic features consistent with Kniest disease: cleft palate, hip dysplasia, dysmorphic flat face, short trunk and extremities, spine deformity, platyspondyly, short and broad femoral necks. Mental development was normal. Body height was below norm (-3.2 SD) and muscular hypotrophy of the extremities and trunk was noticeable. Molecular studies supported the diagnosis of Kniest disease by identification of the COL2A1 mutation (c.1023+1G>A) in intron 16.
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