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.
Hall BD, Greenberg MH. Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome: (Pseudothalidomide, SC Syndrome, SC Phocomelia Syndrome). Am J Dis Child. 1972;123(6):602–604. doi:10.1001/archpedi.1972.02110120126020
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: