{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T20:14:48Z","timestamp":1770495288800,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T00:00:00Z","timestamp":1720483200000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Fontaine progeroid syndrome (FPS, OMIM 612289) is a recently identified genetic disorder stemming from pathogenic variants in the SLC25A24 gene, encoding a mitochondrial carrier protein. It encompasses Gorlin\u2013Chaudry\u2013Moss syndrome and Fontaine\u2013Farriaux syndrome, primarily manifesting as craniosynostosis with brachycephaly, distinctive dysmorphic facial features, hypertrichosis, severe prenatal and postnatal growth restriction, limb shortening, and early aging with characteristic skin changes, phalangeal anomalies, and genital malformations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Cases<\/jats:title><jats:p>All known occurrences of FPS have been postnatally observed until now. Here, we present the first two prenatal cases identified during the second trimester of pregnancy. While affirming the presence of most postnatal abnormalities in prenatal cases, we note the absence of a progeroid appearance in young fetuses. Notably, our reports introduce new phenotypic features like encephalocele and nephromegaly, which were previously unseen postnatally. Moreover, paternal <jats:italic>SLC25A24<\/jats:italic> mosaicism was detected in one case.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We present the initial two fetal instances of FPS, complemented by thorough phenotypic and genetic assessments. Our findings expand the phenotypical spectrum of FPS, unveiling new fetal phenotypic characteristics. Furthermore, one case underscores a potential novel inheritance pattern in this disorder. Lastly, our observations emphasize the efficacy of exome\/genome sequencing in both prenatal and postmortem diagnosis of rare polymalformative syndromes with a normal karyotype and array\u2010based comparative genomic hybridization (CGH).<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdr2.2380","type":"journal-article","created":{"date-parts":[[2024,7,9]],"date-time":"2024-07-09T18:53:19Z","timestamp":1720551199000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Prenatal diagnosis of <i>SLC25A24<\/i> Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism"],"prefix":"10.1002","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3490-2144","authenticated-orcid":false,"given":"Emmanuelle","family":"Pannier","sequence":"first","affiliation":[{"name":"D\u00e9partement d'Obst\u00e9trique et M\u00e9decine F\u0153tale, Maternit\u00e9 Port\u2010Royal, H\u00f4pital Cochin Assistance Publique\u2010H\u00f4pitaux de Paris, FHU PREMA  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abel","family":"Sekri","sequence":"additional","affiliation":[{"name":"Centre de Pathologie et Neuropathologie Est, Groupement Hospitalier Est  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Roux","sequence":"additional","affiliation":[{"name":"D\u00e9partement de M\u00e9decine G\u00e9nomique Des Maladies Rares, H\u00f4pital Necker Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Vasiljevic","sequence":"additional","affiliation":[{"name":"Centre de Pathologie et Neuropathologie Est, Groupement Hospitalier Est  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"La\u00efla","family":"El Khattabi","sequence":"additional","affiliation":[{"name":"M\u00e9decine G\u00e9nomique, H\u00f4pital Cochin, Assistance Publique\u2010H\u00f4pitaux de Paris Universit\u00e9 Paris Cit\u00e9  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicolas","family":"Chatron","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon, Groupement Hospitalier Est  Bron France"},{"name":"Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, U1315 UMR5261 Universit\u00e9 Claude Bernard Lyon1, INSERM, CNRS, Institute NeuroMyoG\u00e8ne  Bron France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Grotto","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique Clinique, Maternit\u00e9 Port\u2010Royal, H\u00f4pital Cochin, Assistance Publique\u2010H\u00f4pitaux de Paris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Delphine","family":"Menzella","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Obst\u00e9trique Institut Mutualiste Montsouris  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilles","family":"Grang\u00e9","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Obst\u00e9trique et M\u00e9decine F\u0153tale, Maternit\u00e9 Port\u2010Royal, H\u00f4pital Cochin Assistance Publique\u2010H\u00f4pitaux de Paris, FHU PREMA  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florent","family":"Th\u00e9bault","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Obst\u00e9trique et M\u00e9decine F\u0153tale, Maternit\u00e9 Port\u2010Royal, H\u00f4pital Cochin Assistance Publique\u2010H\u00f4pitaux de Paris, FHU PREMA  Paris 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