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hrp0092fc6.6 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Craniosynostosis in Inactivating PTH/PTHrP Signaling Disorder 2: A Non-Classical Feature to Consider

Riaño-Galan Isolina , Rothenbuhler Anya , Debza Yahya , Barosi Anna , Mantovani Giovanna , Perez de Nanclares Guiomar , Linglart Agnès

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

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hrp0092p1-23 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Increased Prevalence of Overweight and Obesity and its Clinical Predictors in Children Affected by X-Linked Hypophosphatemia

Zhukouskaya Volha , Rothenbuhler Anya , Colao Annamaria , Di Somma Carolina , Kamenicky Peter , Trabado Séverine , Prié Dominique , Audrain Christelle , Barosi Anna , Kyheng Christèle , Lambert Anne-Sophie , Linglart Agnès

Background/Aim: X-linked hypophosphatemia (XLH) is a rare disease caused by inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene, characterized by chronic hypophosphatemia. XLH children present with progressive skeletal deformities (leg bowing, waddling gait, poor growth and disproportional short stature), dental abscesses, and craniosynostosis. Most affected children have been treated so far with multiple dail...

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ESPE Abstracts

Craniosynostosis in Inactivating PTH/PTHrP Signaling Disorder 2: A Non-Classical Feature to Consider

Increased Prevalence of Overweight and Obesity and its Clinical Predictors in Children Affected by X-Linked Hypophosphatemia

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