Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepip...
Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepiphyseal dysplasia,Maroteaux type (SEDM),Metatropic dysplasia (MD) and Parastremmatic *** recruited 3 families (F1,2 and 3) with congenital scoliosis and 1 family (F4) with localized digital osteopetrosis,which had not been *** this study,we aimed to further analyze the clinical,biochemical and radiographic features of the 4 families and use the next generation sequencing system to obtain the accurate genetic diagnosis for these patients.
1967年有学者观察到，出生体质量小于同胎龄儿第10百分位新生儿的围产期死亡率显著升高，故将这部分新生儿定义为小于胎龄儿（small for gestational age，SGA）。与体质量正常者相比较，SGA患儿围产期死亡率、体温调节障碍、低血糖、...
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1967年有学者观察到，出生体质量小于同胎龄儿第10百分位新生儿的围产期死亡率显著升高，故将这部分新生儿定义为小于胎龄儿（small for gestational age，SGA）。与体质量正常者相比较，SGA患儿围产期死亡率、体温调节障碍、低血糖、高胆红素血症以及坏死性小肠结肠炎等的发生率较高；SGA患儿还常合并学习认知能力低下、身材矮小、代谢综合征等远期并发症。故SGA的早期诊断和治疗对于提高儿童健康水平，保障其平安成长具有十分重要意义。SGA不仅与遗传因素密切相关，还受到母孕期状况及各种环境因素的影响。本文分别从母亲基本情况、母孕期情况及环境因素对SGA发生的危险因素进行综述，以期能够协助临床医师早期甄别SGA患儿，以进行早期干预，从而改善SGA患儿的整体预后。
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