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ALLMedicine™ Acrocapitofemoral Dysplasia Center

Research & Reviews  2 results

Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third...
https://doi.org/10.1016/j.ejmg.2021.104343
European Journal of Medical Genetics; Cubuk PO, Bugrahan Duz M

Sep 17th, 2021 - Acrocapitofemoral dysplasia (ACFD) is a rare autosomal recessive skeletal dysplasia characterized by short stature with short limb dwarfism, brachydactyly, and a narrow thorax. Major radiographic features are egg-shaped capital femoral epiphyses w...

Acrocapitofemoral dysplasia
https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia

Feb 1st, 2011 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 63446 Definition A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with shor...

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