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

doi:10.1016/j.bonr.2021.101067

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

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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
Article number	101067
Journal	Bone Reports
Volume	14
DOIs	https://doi.org/10.1016/j.bonr.2021.101067
Publication status	Published - Jun 2021
Externally published	Yes

Keywords

Chondrodysplasia
Enchondroma
PTHLH
Parathyroid hormone-like hormone

Access to Document

10.1016/j.bonr.2021.101067

Cite this

Tacke, C. E., Terheggen-Lagro, S. W. J., Boot, A. M., Plomp, A. S., Polstra, A. M., van Rijn, R. R., Struijs, P. A. A., van den Berg, H., & Mooij, C. F. (2021). Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report. Bone Reports, 14, Article 101067. https://doi.org/10.1016/j.bonr.2021.101067

@article{0e63df3d244449c6beb056ace57aa844,

title = "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.",

keywords = "Chondrodysplasia, Enchondroma, PTHLH, Parathyroid hormone-like hormone",

author = "Tacke, \{Carline E.\} and Terheggen-Lagro, \{Suzanne W.J.\} and Boot, \{Annemieke M.\} and Plomp, \{Astrid S.\} and Polstra, \{Abeltje M.\} and \{van Rijn\}, \{Rick R.\} and Struijs, \{Peter A.A.\} and \{van den Berg\}, Henk and Mooij, \{Christiaan F.\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Author(s)",

year = "2021",

month = jun,

doi = "10.1016/j.bonr.2021.101067",

language = "English",

volume = "14",

journal = "Bone Reports",

issn = "2352-1872",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication

T2 - A case report

AU - Tacke, Carline E.

AU - Terheggen-Lagro, Suzanne W.J.

AU - Boot, Annemieke M.

AU - Plomp, Astrid S.

AU - Polstra, Abeltje M.

AU - van Rijn, Rick R.

AU - Struijs, Peter A.A.

AU - van den Berg, Henk

AU - Mooij, Christiaan F.

PY - 2021/6

Y1 - 2021/6

N2 - 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.

AB - 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.

KW - Chondrodysplasia

KW - Enchondroma

KW - PTHLH

KW - Parathyroid hormone-like hormone

UR - https://www.scopus.com/pages/publications/85104464689

U2 - 10.1016/j.bonr.2021.101067

DO - 10.1016/j.bonr.2021.101067

M3 - Article

AN - SCOPUS:85104464689

SN - 2352-1872

VL - 14

JO - Bone Reports

JF - Bone Reports

M1 - 101067

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this