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acrocapitofemoral dysplasia
Pathology:
- cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved
- cone-shaped epiphyses were also present to a variable extent at the shoulders, knees, & ankles
Genetics:
- associated with defects in IHH
Clinical manifestations:
- short stature of variable severity with postnatal onset
Radiology:
- the most constant radiographic abnormalities are observed in the tubular bones of the hands & in the proximal part of the femur
General
skeletal dysplasia
Database Correlations
OMIM 607778
References
OMIM :accession 607778