Hashemi Bita, Huntsman Richard J, Li Huan, Zhang Dapeng, Xi Yanwei
Department of Pediatrics, Division of Medical Genetics University of Saskatchewan Saskatoon Saskatchewan Canada.
Department of Pediatrics, Division of Neurology University of Saskatchewan Saskatoon Saskatchewan Canada.
Clin Case Rep. 2023 Jul 17;11(7):e7647. doi: 10.1002/ccr3.7647. eCollection 2023 Jul.
Congenital Contractures of Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome is a recently described type of distal arthrogryposis which unlike other subtypes is associated with developmental delay and various neurologic presentation. Epilepsy and ataxia have been reported. We add paroxysmal dyskinesia to the clinical spectrum. Understanding the molecular mechanism can help developing targeted therapy in future.
This study resulted in identification of a novel variant in gene leading to autosomal dominant CLIFAHDD syndrome. Our patient presented with a form of nonepileptic paroxysmal dyskinesia. This is a new phenotype that has not been described previously.
肢体与面部先天性挛缩、肌张力减退及发育迟缓（CLIFAHDD）综合征是一种最近被描述的远端关节弯曲类型，与其他亚型不同，它与发育迟缓及多种神经学表现相关。已有癫痫和共济失调的报道。我们将阵发性运动障碍纳入了该临床谱。了解分子机制有助于未来开发靶向治疗。
本研究鉴定出一个导致常染色体显性CLIFAHDD综合征的新基因变异。我们的患者表现为一种非癫痫性阵发性运动障碍形式。这是一种此前未被描述过的新表型。
