{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T22:53:40Z","timestamp":1771455220800,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2015,3,30]],"date-time":"2015-03-30T00:00:00Z","timestamp":1427673600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Conradi\u2013H\u00fcnermann\u2013Happle [X\u2010linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X\u2010linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>To better characterize the phenotype in female fetuses, we included nine antenatally diagnosed cases of women with EBP mutations. All cases were <jats:italic>de novo<\/jats:italic> except for two fetuses with an affected mother and one case of germinal mosaicism.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age at diagnosis was 22\u2009weeks of gestation. The ultrasound features mainly included bone abnormalities: shortening (8\/9 cases) and bowing of the long bones (5\/9), punctuate epiphysis (7\/9) and an irregular aspect of the spine (5\/9). Postnatal X\u2010rays and examination showed ichthyosis (8\/9) and epiphyseal stippling (9\/9), with frequent asymmetric short and bowed long bones. The X\u2010inactivation pattern of the familial case revealed skewed X\u2010inactivation in the mildly symptomatic mother and random X\u2010inactivation in the severe fetal case. Differently affected skin samples of the same fetus revealed different patterns of X\u2010inactivation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal detection of asymmetric shortening and bowing of the long bones and cartilage stippling should raise the possibility of CPDX2 in female fetuses, especially because the majority of such cases involve <jats:italic>de novo<\/jats:italic> mutations. \u00a9 2015 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.4591","type":"journal-article","created":{"date-parts":[[2015,3,9]],"date-time":"2015-03-09T05:51:14Z","timestamp":1425880274000},"page":"675-684","source":"Crossref","is-referenced-by-count":17,"title":["Severe X\u2010linked chondrodysplasia punctata in nine new female fetuses"],"prefix":"10.1002","volume":"35","author":[{"given":"Mathilde","family":"Lefebvre","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du D\u00e9veloppement et Syndromes Malformatifs de l'Est, FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"GAD: EA4271 \u00ab G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement \u00bb (GAD), FHU\u2010TRANSLAD Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Service d'Anatomo\u2010Pathologie Facult\u00e9 de M\u00e9decine de Dijon  Dijon France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Dufernez","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Saint\u2010Antoine, Biochimie B, Laboratoire de R\u00e9f\u00e9rence pour le Diagnostic G\u00e9n\u00e9tique des Maladies Rares  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ange\u2010Line","family":"Bruel","sequence":"additional","affiliation":[{"name":"GAD: EA4271 \u00ab G\u00e9n\u00e9tique des Anomalies du D\u00e9veloppement \u00bb (GAD), FHU\u2010TRANSLAD Universit\u00e9 de Bourgogne  Dijon 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