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


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.

SUBMITTER: Fusco C 

PROVIDER: S-EPMC5423807 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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

Fusco Carmela C   Nittis Pasquelena De P   Alfaiz Ali Abdullah AA   Pellico Maria Teresa MT   Augello Bartolomeo B   Malerba Natascia N   Zelante Leopoldo L   Reymond Alexandre A   Merla Giuseppe G  

Journal of pediatric genetics 20160831 2


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 <i>BHLHA9</i> 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 harborin  ...[more]

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