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Article

Achondroplasia-hypochondroplasia complex in a newborn infant.

American journal of medical genetics - 11 Jun 1999

Huggins M J, Smith J R, Chun K, Ray P N, Shah J K, Whelan D T

Abstract excerpt

We describe the case of an 8-month-old girl with achondroplasia-hypochondroplasia complex. The diagnosis was suggested antenatally when obstetrical ultrasonography at 27 weeks of gestation showed short limbs, small chest, and macrocephaly. The father has achondroplasia due to the common G1138A (G380R) mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, while the mother has hypochondroplasia due to...

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Source

Identifiers

PMID: 10360392

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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