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

Details

Serval ID
serval:BIB_1F039028AEE7
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Journal
Journal of Pediatric Genetics
Author(s)
Fusco C., Nittis P., Alfaiz A.A., Pellico M.T., Augello B., Malerba N., Zelante L., Reymond A., Merla G.
ISSN
2146-4596 (Print)
ISSN-L
2146-460X
Publication state
Published
Issued date
2017
Peer-reviewed
Oui
Volume
6
Number
2
Pages
98-102
Language
english
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.

Keywords
17p13.3 microduplication, SHFLD3, osteogenic differentiation, split-hand/foot malformation
Pubmed
Web of science
Create date
23/05/2017 18:30
Last modification date
20/08/2019 13:55
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