Linssen W H, Van den Bent M J, Brunner H G, Poels P J
Department of Neurology, St Lucas Hospital, Amsterdam, The Netherlands.
Am J Med Genet. 1994 May 15;51(1):81-2. doi: 10.1002/ajmg.1320510117.
We report on 3 sibs (2 males and one female) with sensorineural deafness. The presence of ovarian dysgenesis in the girl suggested a diagnosis of Perrault syndrome. In addition our patients have a sensory polyneuropathy and amelogenesis imperfecta. Two of the patients have mild mental retardation, fine choreatic movements, and dyspraxia. It is discussed whether these findings are part of a separate clinical entity or should be included within the spectrum of the Perrault syndrome.
我们报告了3例患有感音神经性耳聋的同胞（2名男性和1名女性）。该女孩存在卵巢发育不全，提示诊断为佩罗特综合征。此外，我们的患者还患有感觉性多神经病和牙釉质发育不全。其中2例患者有轻度智力障碍、细微的舞蹈样动作和运用障碍。文中讨论了这些发现是属于一个单独的临床实体，还是应纳入佩罗特综合征的范畴。
