远端关节挛缩、智力迟钝、特殊面容及生长发育迟缓：再探奇塔亚特综合征
Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited.
作者信息
Wortmann S B, Rodenburg R, Schwahn B, Smeitink J A M, Morava E
机构信息
Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Nijmegen, The Netherlands.
出版信息
Genet Couns. 2007;18(1):119-23.
We report on a patient with congenital distal limb contractures, characteristic face, prominent metopic sutures, narrow forehead, severe psychomotor and growth retardation, white matter lesions and failure to thrive. The child has many overlapping features with those reported previously by Chitayat. We suggest that the central nervous anomalies are responsible for the congenital contractures in Chitayat syndrome.
我们报告了一名患有先天性肢体远端挛缩、特殊面容、额缝突出、额头狭窄、严重精神运动发育迟缓和生长发育迟缓、白质病变以及发育不良的患者。该患儿具有许多与Chitayat之前报道的病例重叠的特征。我们认为中枢神经系统异常是Chitayat综合征先天性挛缩的病因。
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