Langer mesomelic dysplasia in early fetuses: two cases and a literature review

Fetal Pediatr Pathol. 2014 Apr;33(2):71-83. doi: 10.3109/15513815.2013.807322. Epub 2013 Jul 24.


In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is important for genetic and reproductive counseling, estimation of child growth and prevention and/or treatment of complications. A competent pathologist could provide important diagnostic information, orienting or confirming the echographic or genetic suspect, sometimes suggesting diagnostic hypothesis concerning parental unidentified congenital syndromes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Consanguinity
  • Enhancer Elements, Genetic
  • Female
  • Fetus / pathology
  • Growth Disorders / congenital*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Male
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Phenotype
  • Pregnancy
  • Sequence Deletion
  • Short Stature Homeobox Protein
  • Young Adult


  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein

Supplementary concepts

  • Langer mesomelic dysplasia
  • Leri-Weil syndrome