Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect  

作　　者：Lanlan Meng Chaofeng Tu Guangxiu Lu Ge Lin Yueqiu Tan 

机构地区：[1]Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University [2]Reproductive and Genetic Hospital of CITIC-Xiangya

出　　处：《Science China(Life Sciences)》2019年第1期144-147,共4页中国科学（生命科学英文版）

基　　金：supported by the National Natural Science Foundation of China (81771645, 81471432 to Yueqiu Tan)

摘　　要：Dear Editor, Microcephalic osteodysplastic primordial dwarfism type Ⅱ (MOPD Ⅱ )is characterized by developmental retardation, wherein the affected individuals usually present with intrauterine growth retardation and preterm birth (Majewski et al.,1982;Willems et al.,2010).This leads to an average weight of <1,500g at birth and extremely restricted postnatal growth (Hall et al.,2004;Rauch,2011).Clinical manifestations ofMOPD Ⅱ include microcephaly,disproportionately short stature,mild skeletal dysplasia,unusual facial features including a prominent nose,prominent eyes in infancy and early childhood,some affected individuals exhibit slightly reduced intellectual development and cerebral vascular malformations (Willems et al.,2010;Li et al.,2015;Sam et al.,2015).

关 键 词：EDITOR MILD SAM 

分 类 号：R725.8[医药卫生—儿科]