Acromesomelic dysplasia Maroteaux-type in patients from Vietnam

Am J Med Genet A. 2019 Aug;179(8):1420-1422. doi: 10.1002/ajmg.a.61192. Epub 2019 May 11.


Acromesomelic dysplasias are rare skeletal disorders leading to severe short stature and abnormal skeletal morphology. Acromesomelic dysplasia Maroteaux-type is caused by homozygous or compound heterozygous pathogenic variants in NPR2 that encodes for natriuretic peptide receptor B. Here, we reported the first AMDM case in South East Asia and identified a novel pathogenic variant in NPR2 (c. 152T>C, p. (Leu51Pro)). Further analyses reveal the parents and two other family members were heterozygous for the variant. The clinical report highlights the importance of molecular genetic testing in diagnosing rare hereditable disease affecting skeletal abnormalities.

Keywords: NPR2; acromesomelic dysplasia Maroteaux-type; rare disease; short stature; skeletal disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / metabolism*
  • Bone and Bones / pathology
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Gene Expression
  • Genetic Testing
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Radiography
  • Receptors, Atrial Natriuretic Factor / genetics*
  • Vietnam


  • Receptors, Atrial Natriuretic Factor
  • atrial natriuretic factor receptor B

Supplementary concepts

  • Acromesomelic dysplasia, Maroteaux type