Elçioglu N H, Akalin F, Elçioglu M, Comeglio P, Child A H
Department of Pediatric Genetics, Marmara University Hospital, Istanbul, Turkey.
Genet Couns. 2004;15(2):219-25.
Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene: We describe a male infant with severe arachnodactyly, hypermobility of the fingers, flexion contractures of elbows, wrists, hips, and knees, microretrognathia, crumpled ears, rockerbottom feet, loose redundant skin, and lens dislocations. Cardiac valve insufficiency and aortic dilatation resulted in cardiac failure, decompensated with digitalisation and death occurred at the age of 4 months. This case represents the severe end of the clinical spectrum of Marfan syndrome, namely neonatal Marfan syndrome. Molecular diagnostic analyses confirmed a de novo exon 25 mutation in the FBN1 gene.
由原纤维蛋白-1基因第25外显子突变引起的新生儿马方综合征:我们描述了一名男婴,他患有严重的蜘蛛指、手指关节过度活动、肘、腕、髋和膝关节屈曲挛缩、小颌后缩、耳朵皱缩、摇椅底足、皮肤松弛多余以及晶状体脱位。心脏瓣膜功能不全和主动脉扩张导致心力衰竭,经洋地黄治疗未能代偿,患儿于4个月龄时死亡。该病例代表了马方综合征临床谱的严重一端,即新生儿马方综合征。分子诊断分析证实FBN1基因存在新发的第25外显子突变。