Proesmans W, Legius E, Van Herck K, Van Damme B
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Pediatr Nephrol. 1989 Apr;3(2):162-5. doi: 10.1007/BF00852899.
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.
描述了一名男孩，其头发稀疏呈红色，眉毛和睫毛缺失，有皮肤毛细血管扩张，皮下脂肪发育不良，且患有补体正常的膜增生性肾小球肾炎。其他发现包括面容苍老奇特、轻度发育迟缓、脉络丛钙化和肾小动脉硬化。据信这是一个新认识的疾病实体的新病例。
