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hrp0084p2-452 | Growth | ESPE2015

Skeletal Dysplasia with Short Stature and a Larsen-Like Phenotype due to a Homozygous Mutation in B3GAT3

Steichen-Gersdorf Elisabeth , Laccone Franco

Background: Proteoglycans are abundant and structurally complex bio macromolecules. They reside on the cell surface and are a major component of the extracellular matrix including bone. Defective formation of proteoglycans may case pleiotropic connective tissue syndromes including EDS-like and Larsen syndromelike phenotypes.Objective and hypotheses: We report on a girl with disproportionate short stature and joint laxity with pes planus and radial ...

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hrp0092rfc15.5 | Late Breaking Abstracts | ESPE2019

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

Raimann Adalbert , Lui Julian C , Roschger Paul , Wintergerst Uwe , Klaushofer Klaus , Stelzl Robert , Biedermann Rainer , Laccone Franco , Fratzl-Zelman Nadja , Hojo Hironori , Dong Lijin , Jee Youn Hee , Baron Jeffrey , Haeusler Gabriele

Background: Sp7, also known as Osterix (Osx), is a zinc-finger transcription factor, essential for osteoblast differentiation and bone formation. While bone formation is absent in Osx knockout mice, human loss of function mutations lead to impaired bone formation and cause recessive osteogenesis imperfecta, type XII (OMIM 613849 ).Case: The 5-year-old son of non-consanguineous parents presented with multiple long bone fr...

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ESPE Abstracts

Skeletal Dysplasia with Short Stature and a Larsen-Like Phenotype due to a Homozygous Mutation in B3GAT3

De novo Missense Mutation in SP7 in a Patient with Cranial Hyperostosis, Long Bone Fragility, and Increased Osteoblast Number

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