Angelman syndrome

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.

Brachydactyly

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.


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PMID (PMCID)
15876517
 FEMALE
A female with Angelman syndrome and unusual limb deformities.
Oiglane-Shlik E, Rein R, Tillmann V, Talvik T, Ounap K.
Pediatr Neurol. 2005;33(1):66-9.
To our knowledge, such marked limb deformities and brachydactyly have not previously been described in patients with Angelman syndrome.