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Article

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

American journal of medical genetics. Part A - 1 Jan 2003

Ross Judith L, Bellus Gary, Scott Charles I, Abboudi Jack, Grigelioniene Giedre, Zinn Andrew R

Abstract excerpt

We studied two children with combined genetic skeletal disorders. Both had Leri-Weill dyschondrosteosis (LWD); one also had achondroplasia and the other had hypochondroplasia. Both had severe short stature and evidence of rhizomelia and mesomelia as well as other phenotypic features of their individual genetic disorders. Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation...

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Source

Identifiers

PMID: 12476453
DOI: 10.1002/ajmg.a.10807

Genes

SHOX
FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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