A homozygous variant in FGFR3 causing lethal skeletal dysplasia.
PMID 41756230 | PMCID PMC12934494 | DOI 10.24911/SJP.106-1759127221 · Sudanese journal of paediatrics · 2025 · View on PubMed ↗
Homozygous achondroplasia, due to biallelic pathogenic Fibroblast Growth Factor Receptor 3 (FGFR3) variants, is the homozygous lethal expression of an autosomal dominant skeletal dysplasia and is clinically distinct from the classical heterozygous form. We describe a male infant born to two achondroplastic heterozygous parents with severe rhizomelic shortening and radiographic features typical of homozygous achondroplasia. Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3. The infant developed progressive respiratory compromise and died at 63 days of age due to pulmonary hypoplasia-related respiratory failure.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FGFR3 | “A homozygous variant in FGFR3 causing lethal skeletal dysplasia.” | 0.98 | hgnc_dict_v1 |
| phenotype | skeletal dysplasia | “A homozygous variant in FGFR3 causing lethal skeletal dysplasia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | c.1138G>A | “Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3.” | 0.95 | hgvs_regex_v1 |
| variant | p.Gly380Arg | “Molecular analysis revealed a homozygous c.1138G>A (p.Gly380Arg) variant in FGFR3.” | 0.95 | hgvs_regex_v1 |