J Pediatr Genet 2017; 06(02): 098-102
DOI: 10.1055/s-0036-1588029
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case

Carmela Fusco*
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
,
Pasquelena De Nittis*
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
2   Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
,
Ali Abdullah Alfaiz
2   Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
3   Bioinformatics Core Facility, Swiss Institute of Bioinformatics, Lausanne, Switzerland
,
Maria Teresa Pellico
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
,
Bartolomeo Augello
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
,
Natascia Malerba
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
,
Leopoldo Zelante
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
,
Alexandre Reymond
2   Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland
,
Giuseppe Merla
1   Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
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Publikationsverlauf

07. April 2016

19. Juli 2016

Publikationsdatum:
31. August 2016 (online)

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Abstract

Split hand/foot malformation with long bone deficiency (SHFLD) is a congenital limb anomaly where hands and/or feet cleft and syndactyly are associated with long bone defects, usually involving the tibia. Previously published data reported that 17p13.3 chromosomal duplication, including the BHLHA9 gene, has been associated with the distinct entity, termed SHFLD3 (OMIM 612576), inherited as an autosomal dominant trait.

Here, we present a family with three members affected by SHFLD harboring BHLHA9 duplication. We exploited in vitro differentiation system to promote proband's skin fibroblasts toward osteoblastic lineage, and we observed a slight but consistent delay in the mineralization pattern. This result possibly suggests an impairment of the osteogenic process in the affected members.

* These authors contributed equally to this work.


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