A Case Report of Fetal Split Hand Foot Malformation Syndrome: A Rare Congenital Limb Anomaly

被引:0
|
作者
Roy, Prasanna [1 ]
Dey, Shankar [1 ]
机构
[1] Fetal Med & Fertil Ctr, Ultra Clin, Asansol 713304, West Bengal, India
关键词
split hand foot malformation syndrome; prenatal diagnosis; ultrasound; genetic testing; whole exome sequencing; HAND/FOOT MALFORMATION;
D O I
10.1055/s-0044-1788809
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Fetal split hand foot malformation (SHFM) syndrome is a rare congenital disorder characterized by developmental abnormalities of fingers and/or toes, resulting in a split appearance. SHFM is sporadic and shows mainly autosomal dominant inheritance with variable clinical presentation. Prenatal diagnosis plays a crucial role in the management and in counseling of affected families. In this case report, we present the diagnosis of SHFM through ultrasound imaging and genetic testing in a primigravida, along with post abortal fetal findings. The aim was to highlight the importance of early detection during routine ultrasound and genetic counseling for appropriate understanding and management of this rare limb condition.
引用
收藏
页码:175 / 178
页数:4
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