{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:48:46Z","timestamp":1747151326611,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,3,23]],"date-time":"2022-03-23T00:00:00Z","timestamp":1647993600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>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\u2010up after birth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case<\/jats:title><jats:p>We report on three siblings with severe bone abnormalities diagnosed during the second trimester ultrasound of pregnancy. Postnatal follow\u2010up showed transitory hyperparathyroidism, with hypercalcemia and hypocalciuria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sanger sequencing performed after birth in the three newborns revealed a monoallelic pathogenic variant in the <jats:italic>CASR<\/jats:italic> gene, encoding the calcium sensing receptor, confirming the diagnosis of familial hypocalciuric hypercalcemia, paternally inherited. Postnatal evolution was favorable after treatment with a calcimimetic agent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Previously, prenatal bone abnormalities caused by familial hypocalciuric hypercalcemia had only been described in one patient. This entity should be considered as differential diagnosis of bones abnormalities. Knowing about this unusual etiology is important to guide the diagnosis, the prenatal counseling and to improve medical management.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6134","type":"journal-article","created":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T09:02:26Z","timestamp":1647594146000},"page":"583-588","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia"],"prefix":"10.1002","volume":"42","author":[{"given":"Alice","family":"Frerot","sequence":"first","affiliation":[{"name":"Neonatology Department H\u00f4pital Universitaire Robert Debr\u00e9\u2010APHP  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00e9ronique","family":"Baudouin","sequence":"additional","affiliation":[{"name":"Paediatric Nephrology Department H\u00f4pital Universitaire Robert Debr\u00e9\u2010APHP  Paris 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