A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
| Autor: | Pasquelena De Nittis, Maria Teresa Pellico, Natascia Malerba, Bartolomeo Augello, Alexandre Reymond, Ali Abdullah Alfaiz, Giuseppe Merla, Leopoldo Zelante, Carmela Fusco |
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| Přispěvatelé: | Fusco, C, De Nittis, P, Alfaiz, Aa, Pellico, Mt, Augello, B, Malerba, N, Zelante, L, Reymond, A, Merla, G |
| Rok vydání: | 2017 |
| Předmět: |
Proband
030222 orthopedics Pathology medicine.medical_specialty 030219 obstetrics & reproductive medicine Long bone Autosomal dominant trait Anatomy Biology medicine.disease 03 medical and health sciences Split-Hand/Foot Malformation Familial case 0302 clinical medicine medicine.anatomical_structure Pediatrics Perinatology and Child Health Gene duplication medicine Syndactyly Tibia Genetics (clinical) |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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