Smith R A, Gardner-Medwin D
Department of Paediatric Neurology, Newcastle General Hospital, Newcastle upon Tyne, UK.
J Med Genet. 1993 Oct;30(10):870-2. doi: 10.1136/jmg.30.10.870.
A brother and sister with mental retardation, malformations of the cerebellar vermis, characteristic 'metronome' eye movements, lingual hamartomas, and postaxial polydactyly are described. The clinical overlap with the OFD group of syndromes, in particular OFD III and OFD VI, and Joubert's syndrome is discussed. If OFD III syndrome is to be recognised as a distinct entity, these two cases represent the second and third cases reported.
本文描述了一对患有智力障碍、小脑蚓部畸形、特征性“节拍器”眼球运动、舌错构瘤和轴后多指畸形的兄妹。文中讨论了其与口-面-指（OFD）综合征组，特别是OFD III型和OFD VI型，以及Joubert综合征的临床重叠情况。如果OFD III型综合征要被视为一个独特的实体，那么这两例病例代表了已报道的第二例和第三例。
