Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a <i>PTHLH</i> duplication: A case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 33981811.
- Also identified by DOI 10.1016/j.bonr.2021.101067 and PMC identifier 8085669.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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 <i>PTHLH</i> 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 <i>PTHLH</i>.