| Autor: |
Carline E. Tacke, Suzanne W.J. Terheggen-Lagro, Annemieke M. Boot, Astrid S. Plomp, Abeltje M. Polstra, Rick R. van Rijn, Peter A.A. Struijs, Henk van den Berg, Christiaan F. Mooij |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Bone Reports, Vol 14, Iss , Pp 101067- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2352-1872 |
| DOI: |
10.1016/j.bonr.2021.101067 |
| Popis: |
Parathyroid hormone-like hormone (PTHLH) plays an important role in bone formation. Several skeletal dysplasias have been described that are associated with disruption of PTHLH functioning. Here we report on a new patient with a 898 Kb duplication on chromosome 12p11.22 including the PTHLH gene. The boy has multiple skeletal abnormalities including chondrodysplasia, lesions radiographically resembling enchondromas and posterior rib deformities leading to a severe chest deformity. Severe pulmonary symptoms were thought to be caused by limited mobility and secondary sputum evacuation problems due to the chest deformity. Imaging studies during follow-up revealed progression of the number of skeletal lesions over time. This case extends the phenotypic spectrum associated with copy number variation of PTHLH. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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