A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants

Oliver Murch; Vani Jain; Amaka C Offiah

doi:10.1016/j.radcr.2021.05.011

A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants

Radiol Case Rep. 2021 Jun 14;16(8):2240-2243. doi: 10.1016/j.radcr.2021.05.011. eCollection 2021 Aug.

Authors

Oliver Murch¹, Vani Jain¹, Amaka C Offiah²

Affiliations

¹ All Wales Medical Genomics Service, Institute of Medical Genetics, University Hospital of Wales, Cardiff, CF14 4XW, UK.
² Paediatric Musculoskeletal Imaging, Academic Unit of Child Health, University of Sheffield and Sheffield Children's NHS Foundation Trust, Western Bank, Sheffield, S10 2TH UK.

Abstract

Acromesomelic dysplasia, type Maroteaux is caused by variants in NPR2. It is a severe chondrodysplasia resulting in shortening of the middle and distal segments of the limbs. Limb length at birth may be normal but decreased growth becomes obvious in the first 2 years of life. Here we present an 11-year-old male with mild but typical skeletal features of acromesomelic dysplasia, type Maroteaux. Whole exome sequencing has identified two likely pathogenic variants in NPR2 which have not previously been reported in individuals with acromesomelic dysplasia, type Maroteaux. Given these findings, a diagnosis of AMDM should be considered in individuals with characteristic radiological findings, even if stature is only modestly affected.

Keywords: AMDM; Acromesomelic dysplasia, type Maroteaux; NPR2; Natriuretic peptide receptor B.

Publication types

Case Reports