Abstract
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.
Original language | English |
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Article number | 101067 |
Journal | Bone Reports |
Volume | 14 |
DOIs | |
Publication status | Published - 1 Jun 2021 |
Keywords
- Chondrodysplasia
- Enchondroma
- PTHLH
- Parathyroid hormone-like hormone