Mathieu M, Goldfarb A, Berquin P, Boudailliez B, Labeille B, Piussan C
Centre de Conseil Génétique, Service de Pediatrie I, Amiens, France.
Genet Couns. 1991;2(2):115-8.
Two brothers are described with trichomegaly, early pigmentary degeneration of the retina, growth retardation, anterior pituitary deficiencies and peripheral neuropathy. This syndrome, initially reported in a boy by Olivers and Mac Farlane in 1965 (6), and thereafter in six sporadic cases of both sexes, is not associated with a recognizable chromosomal defect. The present report of two brothers of healthy parents with negative familial history suggests an autosomal recessive mode of inheritance of this entity.
本文描述了两兄弟患有睫毛粗长、视网膜早期色素变性、生长发育迟缓、垂体前叶功能减退和周围神经病变。该综合征最初由奥利弗斯和麦克法兰于1965年在一名男孩中报道（6），此后又有6例散发性病例报道，男女均有，且与可识别的染色体缺陷无关。本报告中两兄弟的父母健康，家族史阴性，提示该疾病为常染色体隐性遗传模式。
