Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome
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TL;DR
An 8-year-old girl has hypomelia-hypotrichosis-facial hemangioma syndrome and the fact that she is of normal mentality improves significantly this prognostic area.
Abstract
An 8-year-old girl has hypomelia-hypotrichosis-facial hemangioma syndrome. The patient closely resembles four other patients in whom limb reduction defects, sparse silver-blond hair, characteristic facies, and a mid-facial hemangioma were outstanding features. She is the oldest reported patient with this possible autosomal recessive disorder and the fact that she is of normal mentality improves significantly this prognostic area.