A distinctive facial appearance in neurofibromatosis von Recklinghausen.
Three children with neurofibromatosis from two unrelated families have unusual facial appearance due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin. The two boys have large hands and feet, and one is very tall. There were some facial and dermatoglyphic similarities to individuals with the Noonan syndrome, but the manifestations in the children reported here are sufficiently different to suggest the presence of a different type of neurocristopathy in these individuals.
D000293:Adolescent; D000328:Adult; D002648:Child; D005149:Facial Expression; D005260:Female; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis / Q000235:genetics*; D009634:Noonan Syndrome / Q000175:diagnosis; D013577:Syndrome