CAJ | 학술논문

手足裂畸形(SHFM)是一种罕见先天性肢端缺陷,临床表型复杂,具有很高的遗传异质性.到目前为止研究报道中,既有非综合征SHFM(isolated/nonsyndromic SHFM),也包含有综合征SHFM(syndrome SHFM).为促进SHFM的临床遗传致病因素的探寻,从而推动SHFM临床遗传咨询和诊断,该文就近年来SHFM的临床表型及分子遗传学研究作一简要综述.
수족렬기형(SHFM)시일충한견선천성지단결함,림상표형복잡,구유흔고적유전이질성.도목전위지연구보도중,기유비종합정SHFM(isolated/nonsyndromic SHFM),야포함유종합정SHFM(syndrome SHFM).위촉진SHFM적림상유전치병인소적탐심,종이추동SHFM림상유전자순화진단,해문취근년래SHFM적림상표형급분자유전학연구작일간요종술.
Split hand foot malformation (SHFM) is a developmental defect of the extremities resulting from errors in the initiation and maintenance of the apical ectodermal ridge (AER).The phenotype of SHFM,is extremely complex because of its variability in clinical presentation,irregularities in its inheritance pattern.Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed.This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis,perform an accurate recurrence risk assessment,and formulate a management plan to intervene SHFM.