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spondyloepimetaphyseal dysplasia MATN3-related
Pathology:
- bone disease
- severe epiphyseal & metaphyseal dysplasia
Genetics:
- associated with defects in MATN3
Clinical manifestations:
- disproportionate early-onset dwarfism
- bowing of the lower limbs
- lumbar lordosis
- normal hands
- skeletal abnormalities include
- short, wide & stocky long bones with
- severe epiphyseal & metaphyseal changes
- hypoplastic iliac bones
- flat, ovoid vertebral bodies
General
spondyloepimetaphyseal dysplasia
Database Correlations
OMIM 608728
References
UniProt :accession 608728