Manon-Espaillat R, Gothe B, Adams N, Newman C, Ruff R
Department of Neurology, VA Medical Center, Cleveland, OH 44106.
Neurology. 1988 Feb;38(2):190-3. doi: 10.1212/wnl.38.2.190.
We describe a familial disorder consisting of sleep apnea, anosmia, colorblindness, partial complex seizures, and cognitive dysfunction. The phenotypic expression of the syndrome suggests an autosomal dominant inheritance with incomplete penetrance.
我们描述了一种家族性疾病，其症状包括睡眠呼吸暂停、嗅觉丧失、色盲、部分性癫痫发作和认知功能障碍。该综合征的表型表达提示为常染色体显性遗传且外显不全。
