A case of cardio-facio-cutaneous syndrome.
A 6-yr-old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio-facio-cutaneous syndrome and to be the first such case identified in Britain.
Mucklow
E S
ES
Pediatric Department, St. Mary's Hospital, Newport, Isle of Wight, England.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005149:Facial Expression; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006391:Hemangioma / Q000175:diagnosis; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis; D009048:Motor Skills; D013163:Splenomegaly / Q000175:diagnosis; D013577:Syndrome