Variable expressivity of neurofibromatosis-1 in identical twins.
Monozygotic twins with Neurofibromatosis-1 (NF-1) who have both concordant and discrepant clinical manifestations are reported. At 7 years of age, both twins were found to have learning disabilities, poor fine and gross motor skills, but different distributions of café-au-lait spots, axillary freckling, and iris Lisch nodules; only twin A was found to have multiple neurofibromas involving the mesentery. Manifestations of mesenteric neurofibromas have not been reported previously to occur this early in childhood; they are an unusual presenting feature of NF-1.
Bauer
M
M
Department of Pediatrics, University of Miami, Fla.
Lubs
H
H
Lubs
M L
ML
D002648:Child; D004200:Diseases in Twins / Q000235:genetics*; D006801:Humans; D007414:Intestinal Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography