| Autor: |
Riikka E, Mäkitie, Sanna, Toiviainen-Salo, Ilkka, Kaitila, Outi, Mäkitie |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Frontiers in endocrinology. 13 |
| ISSN: |
1664-2392 |
| Popis: |
Skeletal dysplasias comprise a heterogenous group of developmental disorders of skeletal and cartilaginous tissues. Several different forms have been described and the full spectrum of their clinical manifestations and underlying genetic causes are still incompletely understood. We report a three-generation Finnish family with an unusual, autosomal dominant form of osteochondrodysplasia and an empty sella. Affected individuals (age range 24-44 years) exhibit unusual codfish-shaped vertebrae, severe early-onset and debilitating osteoarthritis and an empty sella without endocrine abnormalities. Clinical characteristics also include mild dysmorphic features, reduced sitting height ratio, and obesity. Whole-exome sequencing excluded known skeletal dysplasias and identified a novel heterozygous missense mutation c.899CT (p.Thr300Met) in |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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