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Article Dans Une Revue Prenatal Diagnosis Année : 2022

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia

Résumé

Prenatal diagnosis of bone and mineralization anomalies is associated with a wide range of etiologies and prognoses. The improvement of antenatal ultrasound combined with the development of molecular diagnosis in genetics has transformed antenatal medicine into a challenging discipline. Of the various known causes of bone abnormalities and hypomineralization, calcium and phosphate metabolism disorders are exceptional. An accurate diagnosis is crucial for providing appropriate genetic counseling and medical follow-up after birth.
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hal-03971189 , version 1 (03-02-2023)

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Alice Frerot, Véronique Baudouin, Aline Rideau-Batista, Anne Couderc, Catherine Garel, et al.. Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia. Prenatal Diagnosis, 2022, 42 (5), pp.583-588. ⟨10.1002/pd.6134⟩. ⟨hal-03971189⟩
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