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Abstract

January - March 2022 | Vol. 15 | Issue 1 | 02-05
Recurrent Non-immune Hydrops and Epiphyseal Stippling in Fetuses Affected with Infantile Sialic Acid Storage Disease
Sumita Danda1, Manisha Madhai Beck2, Swati Rathore2
1Clinical Genetics Unit, Christian Medical College & Hospital, Vellore, Tamil Nadu, India 2Department of Obstetrics and Gynaecology, Christian Medical College & Hospital, Vellore, Tamil Nadu, India
Address for Correspondence Email: sumita_danda@hotmail.com
 
Abstract
This is the report of a woman with two pregnancies, subsequently terminated, for fetuses presenting with non-immune hydrops, and infantogram showing extensive bone stippling. Clinical exome sequencing was carried out in the DNA banked from one of the affected fetuses. This identified a homozygous pathogenic variant; c.110_111delinsGGA (p.Ser37TrpfsTer41) in the SLC17A5 gene,revealing the diagnosis of infantile sialic acid storage disease (ISSD).Stippled epiphyses have been previously reported in-utero as well as in post-delivery radiographs in ISSD. These are the first cases of stippled epiphyses in fetuses affected with ISSD reported from India.
 
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