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.
Keywords:
Hair anomaly; Oliver-McFarlane syndrome; retinitis pigmentosa; short stature; trichomegaly.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Asian People / genetics
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Blepharoptosis / diagnosis*
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Blepharoptosis / genetics
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Child, Preschool
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China / epidemiology
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Developmental Disabilities / diagnosis
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Developmental Disabilities / genetics
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Dwarfism / diagnosis*
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Dwarfism / genetics
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Eyebrows / abnormalities
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Eyelashes / abnormalities
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Humans
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Hypertrichosis / diagnosis*
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Hypertrichosis / genetics
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Intellectual Disability / diagnosis*
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Intellectual Disability / genetics
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Male
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Night Blindness
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Retinitis Pigmentosa / diagnosis*
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Retinitis Pigmentosa / genetics
Supplementary concepts
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Oliver-McFarlane syndrome