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: Xunlun Sheng, Shuang Zhang, Klaus Peter Boergen, Huiping Li, Yani Liu
• Journal: Ophthalmic genetics (Ophthalmic Genet) Vol. 36 Issue 1 Pg. 70-4 (Mar 2015) ISSN: 1744-5094 [Electronic] England
• PMID: 23952657 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Asian People (genetics)
• Blepharoptosis (diagnosis, genetics)
• Child, Preschool
• China (epidemiology)
• Developmental Disabilities (diagnosis, genetics)
• Dwarfism (diagnosis, genetics)
• Eyebrows (abnormalities)
• Eyelashes (abnormalities)
• Humans
• Hypertrichosis (diagnosis, genetics)
• Intellectual Disability (diagnosis, genetics)
• Male
• Night Blindness
• Retinitis Pigmentosa (diagnosis, genetics)