{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T22:23:48Z","timestamp":1792103028287,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2023,6,23]],"date-time":"2023-06-23T00:00:00Z","timestamp":1687478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      <jats:italic>CREBBP<\/jats:italic>\n                      truncating mutations and deletions are responsible for the well\u2010known Rubinstein\u2010Taybi syndrome. Recently, a new, distinct\n                      <jats:italic>CREBBP<\/jats:italic>\n                      \u2010linked syndrome has been described: missense mutations located at the 3\u2032 end of exon 30 and the 5\u2032 portion of exon 31 induce Menke\u2010Hennekam syndrome. Patients with this syndrome present a recognizable facial dysmorphism, intellectual disability of variable severity, microcephaly, short stature, autism, epilepsy, visual and hearing impairments, feeding problems, upper airway infections, scoliosis, and\/or kyphosis. To date, all diagnoses were made postnatally.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method and Case Report<\/jats:title>\n                    <jats:p>Trio\u2010whole exome sequencing (WES) was performed in a fetus showing increased nuchal translucency persistence and aorta abnormalities at 28\u2009weeks of gestation (WG).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      WES revealed a\n                      <jats:italic>CREBBP<\/jats:italic>\n                      de novo missense mutation (c.5602C&gt;T; p.Arg1868Trp) in exon 31, previously reported as the cause of Menke\u2010Hennekam syndrome. Termination of pregnancy was performed at 32 WG. We further reviewed the prenatal signs of Menke\u2010Hennekam syndrome already reported. Among the 35 patients reported and diagnosed postnatally up to this day, 15 presented recognizable prenatal signs, the most frequent being intra\u2010uterine growth retardation, brain, and cardiovascular anomalies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Menke\u2010Hennekam is a rare syndrome with unspecific, heterogeneous, and inconstant prenatal symptoms occurring most frequently with the c.5602C&gt;T, p.(Arg1868Trp) mutation. Therefore, the prenatal diagnosis of Menke\u2010Hennekam syndrome is only possible by molecular investigation. Moreover, this case report and review reinforce the importance of performing prenatal WES when unspecific signs are present on imaging.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2219","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T21:19:55Z","timestamp":1687641595000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Diagnosis of Menke\u2010Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3505-7114","authenticated-orcid":false,"given":"Guillaume","family":"Cogan","sequence":"first","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares, AP\u2010HP.Centre, Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Bourgon","sequence":"additional","affiliation":[{"name":"Service d'Obst\u00e9trique\u2014Maternit\u00e9 Chirurgie, M\u00e9decine et Imagerie foetales, AP\u2010HP.Centre H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxana","family":"Borghese","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares, AP\u2010HP.Centre, Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Julien","sequence":"additional","affiliation":[{"name":"Service d'Obst\u00e9trique Centre hospitalier du Mans  Le Mans France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lia","family":"Jaquette","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie, g\u00e9n\u00e9tique m\u00e9dicale Centre hospitalier d'Alen\u00e7on  Alen\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Stos","sequence":"additional","affiliation":[{"name":"AP\u2010HP.Centre Cardiologie P\u00e9diatrique H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amale","family":"Achaiaa","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares, AP\u2010HP.Centre, Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Chuon","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares, AP\u2010HP.Centre, Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris 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Universitaire Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Attie\u2010Bitach","sequence":"additional","affiliation":[{"name":"Service de m\u00e9decine g\u00e9nomique des maladies rares, AP\u2010HP.Centre, Institut Imagine H\u00f4pital Universitaire Necker\u2010Enfants Malades  Paris 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