Osteogenesis imperfecta type 1 with an incidental finding of bilateral radioulnar synostosis

Clin Dysmorphol. 2020 Jul;29(3):155-157. doi: 10.1097/MCD.0000000000000323.

Authors

Louise J Apperley¹, Stacey Richmond¹, Renuka Ramakrishnan¹, Meena Balasubramanian^{2

3}

Affiliations

¹ Department of Paediatric Endocrinology, Alder Hey Children's NHS Foundation Trust, Liverpool.
² Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust.
³ Highly Specialised Severe, Complex and Atypical Osteogenesis Imperfecta Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

PMID: 32282353
DOI: 10.1097/MCD.0000000000000323

No abstract available

Publication types

Case Reports

MeSH terms

Child, Preschool
Collagen Type I / genetics
Collagen Type I / metabolism
Female
Humans
Incidental Findings
Osteogenesis Imperfecta / diagnosis
Osteogenesis Imperfecta / genetics*
Radius / abnormalities*
Synostosis / diagnosis*
Synostosis / genetics*
Ulna / abnormalities*

Substances

Collagen Type I

Supplementary concepts

Radioulnar Synostosis