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Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia

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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… Click to show full abstract

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.

Keywords: abnormalities three; three cases; bone abnormalities; diagnosis; bone; prenatal bone

Journal Title: Prenatal Diagnosis
Year Published: 2022

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