{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:11:28Z","timestamp":1778731888444,"version":"3.51.4"},"reference-count":12,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Carpenter syndrome is caused by mutations of the <jats:italic>RAB23<\/jats:italic> gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel <jats:italic>RAB23<\/jats:italic> mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of <jats:italic>RAB23<\/jats:italic> identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G\u2009&gt;\u2009C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and\/or cardiac defect associated with abnormal skull shape. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36726","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T16:39:31Z","timestamp":1409243971000},"page":"2926-2930","source":"Crossref","is-referenced-by-count":28,"title":["Prenatal findings in carpenter syndrome and a novel mutation in <i>RAB23<\/i>"],"prefix":"10.1002","volume":"164","author":[{"given":"Damien","family":"Haye","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Centre Hospitalier Universitaire Lariboisi\u00e8re, APHP Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Sembely\u2010Taveau","sequence":"additional","affiliation":[{"name":"Service de Radiologie P\u00e9diatrique, H\u00f4pital Clocheville Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georges","family":"Haddad","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie Obst\u00e9trique Centre Hospitalier Blois France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christelle","family":"Denis","sequence":"additional","affiliation":[{"name":"Service de Gyn\u00e9cologie Obst\u00e9trique, H\u00f4pital Bretonneau Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Soul\u00e9","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine P\u00e9diatrique, H\u00f4pital Clocheville Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie\u2010Laure","family":"Suc","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine N\u00e9onatale H\u00f4pital Clocheville Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoine","family":"Listrat","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de Neurochirurgie P\u00e9diatrique, H\u00f4pital Clocheville Centre Hospitalier Universitaire Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, H\u00f4pital Bretonneau Centre Hospitalier Universitaire Tours France"},{"name":"UMR_INSERM U930, Facult\u00e9 de M\u00e9decine Universit\u00e9 Fran\u00e7ois Rabelais Tours France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33327"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.5336\/medsci.2010-19822"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1994.13.11.905"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02501.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1159\/000345653","article-title":"A novel aberrant splice site mutation in RAB23 leads to an eight nucleotide deletion in the mRNA and is responsible for Carpenter syndrome in a consanguineous Emirati family","volume":"3","author":"Ben\u2010Salem S","year":"2013","journal-title":"Mol Syndromol"},{"key":"e_1_2_5_7_1","first-page":"110","article-title":"Two sisters showing malformations of the skull and other congenital 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