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

Author:

Roy Prasanna1,Dey Shankar1ORCID

Affiliation:

1. Ultra Clinic, Fetal Medicine and Fertility Centre, Asansol, West Bengal, India

Abstract

AbstractFetal 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.

Publisher

Georg Thieme Verlag KG

Reference8 articles.

1. Sonographic prenatal diagnosis of ectrodactyly: a case study;G Bailess;J Diagn Med Sonogr,2022

2. Split hand foot malformation: a case report;P Batra;J Clin Diagn Res,2014

3. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients;A M Elliott;Am J Med Genet A,2006

4. Bilateral cleft foot: radiographic and prenatal ultrasound features of two siblings with a review of literature;M S Durmaz;Medicina (Kaunas),2016

5. Split-hand/foot malformation - molecular cause and implications in genetic counseling;A Sowińska-Seidler;J Appl Genet,2014

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