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achondrogenesis type 1A
Pathology:
- lethal form of chondrodysplasia
- deficient ossification in the lumbar vertebrae
- absent ossification in the sacral, pubic & ischial bones
Genetics:
- associated with defects in TRIP11
Clinical manifestations:
- stillbirth or early death
- severe micromelia
- disproportionately large cranium due to marked edema of soft tissues
Related
achondroplasia
General
achondrogenesis
Database Correlations
OMIM 200600
References
OMIM :accession 200600