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.

• Hair anomaly
• Oliver-McFarlane syndrome
• retinitis pigmentosa
• short stature
• trichomegaly

Acknowledgments

The authors thank Ms Isabel Boergen for her linguistic support.

Declaration of Interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This work was supported by a Grant for Ningxia Scientific and Technological Projects (No. 2011ZYS175) from the Department of Science and Technology in Ningxia Hui Autonomous Region.