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ba0006p069 | (1) | ICCBH2017

Multiple fractures that begun in utero in a pre-adolescent child with low ALP levels and nephrocalcinosis: clinical aproximation for the differential diagnosis of hypophosphatasia (HPP)

Fernandez Maria Isabel Gonzalez , Montesinos Berta Lopez , Marti Miguel , Calvo Inmaculada

Objectives: Differential diagnosis vs. Osteogenesis Imperfecta (OI).Methods: The parents were Moroccan origin, consanguineous. The patient is an 8 year old girl, who was visited for a first time in our hospital in October 2016, presenting a fracture of the left femur, with dramatic bone deformations, with important disability, unable to walk and with growth retardation (weight 15 kg, length: 92 cm). The first registered fracture is at birth, consisting o...

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Multiple fractures that begun in utero in a pre-adolescent child with low ALP levels and nephrocalcinosis: clinical aproximation for the differential diagnosis of hypophosphatasia (HPP)

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