19 top medical experts on Fryns Hofkens Fabry syndrome across 4 countries and 1 U.S. states, including 1 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- Fryns Hofkens Fabry syndrome: This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Ulna hypoplasia, Ulnar hypoplasia, Upper limb mesomelic dysplasia
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