Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report
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
Affiliations
Carline E. Tacke
Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Suzanne W.J. Terheggen-Lagro
Department of Pediatric Pulmonology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Annemieke M. Boot
Department of Pediatric Endocrinology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands
Astrid S. Plomp
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Abeltje M. Polstra
Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Rick R. van Rijn
Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Peter A.A. Struijs
Department of Orthopedic Surgery, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Henk van den Berg
Department of Pediatric Oncology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands
Christiaan F. Mooij
Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Corresponding author at: Amsterdam UMC – University of Amsterdam, Emma Children's Hospital, Department of Pediatric Endocrinology, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
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.
