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J Pediatr Genet 2017; 06(03): 194-197
DOI: 10.1055/s-0037-1602142
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation

Periyasamy Radhakrishnan
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Shalini S. Nayak
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Muralidhar V. Pai
2   Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India
,
Anju Shukla
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
,
Katta M. Girisha
1   Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India
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Publikationsverlauf

31. Dezember 2016

12. März 2017

Publikationsdatum:
10. April 2017 (online)

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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.

Keywords

synpolydactyly - HOXD13 - omphalocele - syndactyly - polydactyly
 

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