The eyes appeared to be lumps of coagulated blood, turned out, about the bigness of a plum, ghastly to behold. It had no external ears, but holes where the ears should be. The hands and feet appeared to be swollen, were cramped up and felt quite hard. The back part of the head was much open. It made a strange kind of noise, very low, which I cannot describe. It lived about forty-eight hours and was alive when I saw it." The harlequin-type designation comes from the diamond shape of the scales at birth (resembling the costume of Arlecchino). Gallery
Notable cases
Nusrit "Nelly" Shaheen (born in 1984) is possibly the oldest known survivor; she resides in Coventry, England, and was one of nine children in a Pakistani Muslim household. Four of her eight siblings also had the condition but died as young children. Ryan Gonzalez (born in 1986) is the oldest person in the United States living with the disease. He was featured in an episode of Medical Incredible. Stephanie Turner (1993 – 2017) was the second oldest person in the United States living with the disease, and the first ever to give birth. Turners two children do not have the disease. She died on March 3, 2017, at age 23. Mason van Dyk (born 2013), despite being given a life expectancy of one to five days, was five years old as of July 2018.
MRI is the preferred imaging study. An abnormal MRI is associated with a worse visual outcome. References


== External links ==