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Your search keyword '"Astrid S Plomp"' showing total 2 results
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2 results on '"Astrid S Plomp"'

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

Author

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, and Christiaan F. Mooij

Subjects
Parathyroid hormone-like hormone, PTHLH, Chondrodysplasia, Enchondroma, Diseases of the musculoskeletal system, RC925-935
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.

Published
2021
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2. Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication

Author

Annemieke M. Boot, Henk van den Berg, Peter A A Struijs, Carline E. Tacke, Rick R. van Rijn, Abeltje M. Polstra, Christiaan F. Mooij, Astrid S Plomp, Suzanne W.J. Terheggen-Lagro, Faculteit Medische Wetenschappen/UMCG, General Paediatrics, Paediatric Pulmonology, Human Genetics, Radiology and Nuclear Medicine, Other Research, AMS - Musculoskeletal Health, APH - Personalized Medicine, APH - Quality of Care, Orthopedic Surgery and Sports Medicine, Paediatric Oncology, Paediatric Endocrinology, and Amsterdam Reproduction & Development (AR&D)

Subjects
0301 basic medicine, Pathology, medicine.medical_specialty, DEXA, dual-energy X-ray absorptiometry, Endocrinology, Diabetes and Metabolism, Enchondroma, Case Report, 030209 endocrinology & metabolism, AP, anteroposterior, Diseases of the musculoskeletal system, Chest deformity, 03 medical and health sciences, 0302 clinical medicine, Gene duplication, medicine, Orthopedics and Sports Medicine, Copy-number variation, business.industry, MUTATIONS, PA, posteroanterior, PTHLH, medicine.disease, CT, computed tomography, IHH, Indian hedgehog, RC925-935, PTHrP, parathyroid hormone related peptide, SDS, standard deviation score, Chondrodysplasia, Sputum, Parathyroid hormone-like hormone, 030101 anatomy & morphology, Limited mobility, Skeletal abnormalities, medicine.symptom, business, PTHLH, parathyroid hormone-like hormone, PTHLH gene
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.

Published
2021

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