Get a Free Pass for 30 Days
NEW! Webinars Clinical Teratology/Genetics
8 seconds left ×

"A facial " (details from "Gnome with a facial sign of a possible cause ") (see related A | B) Mirabell gardens - Zwerglgarten (Dwarf garden) , Salzburgh, Austria

 Among the many companion statuettes depicting "dwarfs" or "gnomes", this ladys facial features are normal in comparison of the other. Furthermore, depicted clearly is a fleshy "mole" like. In the context of similar "moles" in other companion statuettes, the strong suggestion is that the "mole" is a neurofibroma. Multiple neurofibromas is a sign of the imapct of an autosomal dominant mutation resulting in Neurofibromatosis type 1 (NF-1) or "peripheral neurofibormatosis". Note that NF-1 is associated with short stature and scoliosis (see companion representation of other dwarfs).

20170403 ww