title: Oliver-McFarlane syndrome in a chinese boy: retinitis pigmentosa, trichomegaly, hair anomalies and mental retardation.
abstract: We report a male patient with retinitis pigmentosa, growth failure, long eyelashes, and sparse hair, which are typical signs of Oliver-McFarlane syndrome. The patient was born to healthy parents and developed night blindness at 2 years of age. Retinitis pigmentosa was diagnosed when he was 5 years old. To date, only 11 cases of Oliver-McFarlane syndrome have been documented, with the present case being the 12th overall and the first in China. Thus, the existence of typical Oliver-McFarlane syndrome in Asians was verified.
authors: Ningxia Eye Hospital, Ningxia People's Hospital, Yinchuan , Ningxia , China and.
authors: Xunlun
authors: X
authors: Sheng
authors: Shuang
authors: S
authors: Zhang
authors: Klaus
authors: K
authors: Peter Boergen
authors: Huiping
authors: H
authors: Li
authors: Yani
authors: Y
authors: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D001763:Blepharoptosis / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics; D005138:Eyebrows / Q000002:abnormalities; D005140:Eyelashes / Q000002:abnormalities; D006801:Humans; D006983:Hypertrichosis / Q000175:diagnosis* / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009755:Night Blindness; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000235:genetics
keywords: Hair anomaly; Oliver-McFarlane syndrome; retinitis pigmentosa; short stature; trichomegaly