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

Détails

ID Serval
serval:BIB_1F039028AEE7
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case.
Périodique
Journal of Pediatric Genetics
Auteur(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
Statut éditorial
Publié
Date de publication
2017
Peer-reviewed
Oui
Volume
6
Numéro
2
Pages
98-102
Langue
anglais
Résumé
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.

Mots-clé
17p13.3 microduplication, SHFLD3, osteogenic differentiation, split-hand/foot malformation
Pubmed
Web of science
Création de la notice
23/05/2017 18:30
Dernière modification de la notice
03/03/2018 14:37
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