Occurrence of synpolydactyly and omphalocele in a fetus with a HOXD13 mutation

Radhakrishnan, P and Nayak, Shalini S and Pai, Muralidhar V and Shukla, Anju and Girisha, KM (2017) Occurrence of synpolydactyly and omphalocele in a fetus with a HOXD13 mutation. Journal of Pediatric Genetics, 6 (3). pp. 194-197. ISSN 2146-4596

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Abstract

Synpolydactyly (SPD) is an autosomal dominant congenital limb disorder due to mutations in HOXD13. It is a phenotypically heterogeneous condition characterized by syndactyly of the third finger (F3), fourth finger (F4) and/or fourth toe (T4), and fifth toe (T5) with variably associated polydactyly. We report on a mother and fetus with SPD. The mother has a novel mutation (c.708_708delC) in the HOXD13 gene that was also seen in the fetus. However, the fetus had congenital omphalocele in addition to SPD that is an association not reported to date. A chromosomal microarray in the fetus was normal.We report a novel mutation in HOXD13 and document co-occurrence of an omphalocele and SPD in a fetus.

Item Type: Article
Uncontrolled Keywords: Synpolydactyly; HOXD13; omphalocele; syndactyly; polydactyly.
Subjects: Medicine > KMC Manipal > Obstetrics & Gynaecology
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 31 Aug 2017 09:02
Last Modified: 31 Aug 2017 09:02
URI: http://eprints.manipal.edu/id/eprint/149600

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