Labrune P, Huguet P, Alagille D, Odievre M
Service de Pédiatrie Générale, Hôpital Antoine Béclère, Clamart, France.
J Med Genet. 1991 Feb;28(2):114-6. doi: 10.1136/jmg.28.2.114.
Three sibs out of four, born to unrelated parents, developed early cutaneous photosensitivity and severe colitis. All of them died from untreatable diarrhoea. A fourth boy, whose father was different, did not have the same symptoms. The origin of this syndrome remains unclear and, in particular, no metabolic defect could be detected.
四个孩子由非近亲父母所生，其中三个出现了早期皮肤光敏感性和严重结肠炎。他们均死于无法治疗的腹泻。第四个男孩，父亲不同，没有出现同样的症状。该综合征的病因尚不清楚，尤其是未检测到代谢缺陷。
