Abstract
A boy with sparse red hair, absent eyebrows and eyelashes, cutaneous telangiectasia, poorly developed subcutaneous fat and normocomplementaemic membranoproliferative glomerulonephritis is described. Additional findings were an old-looking, peculiar face, mild developmental delay, calcified choroid plexus and renal arteriolosclerosis. It is believed that this is a new case of a newly recognized entity.
MeSH terms
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Biopsy
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Child
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Choroid Plexus / diagnostic imaging
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Glomerulonephritis, Membranoproliferative / complications*
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Hair Diseases / complications*
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Hair Diseases / genetics
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Humans
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Hyalin / metabolism
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Kidney / metabolism
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Kidney / pathology
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Male
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Skin / pathology
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Skin Diseases / complications*
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Skin Diseases / pathology
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Telangiectasis / complications*
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Telangiectasis / pathology
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Tomography, X-Ray Computed