Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

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 .

Unique coexistence of SHOX and PTHLH gene mutations in a 12-year-old boy with syndromic short stature. Case report with literature review

“…Some pathogenic variants in the PTHLH gene may cause a specific pattern of short stature accompanied by other clinical features such as oligodontia, delayed tooth eruption, and variable middle or distal phalangeal anomalies. Delayed bone age and chest deformities have been also reported (11,13) . These phenotypic features seem to be concordant with brachymesophalangia II and V type A4, dental anomalies, and thoracic anomalies in our patient.…”

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report

“…Flöttmann et al reported on a three-generation pedigree with short humerus, curved radius, and a specific type of severe brachydactyly with features of types E and A1 but without the enchondromatosis and AO hitherto described [ 22 ]. Finally, Tacke et al reported on a patient with multiple skeletal abnormalities including chondrodysplasia, lesions radiographically resembling enchondromas and posterior rib deformities leading to a severe chest deformity [ 23 ]. No AO was observed in this patient (probably not yet present owing to the young age of the patient compared to the other observations).…”