{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T10:02:25Z","timestamp":1779789745638,"version":"3.53.1"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,7,17]],"date-time":"2025-07-17T00:00:00Z","timestamp":1752710400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Miller syndrome (MIM#263750) is a rare autosomal recessive acrofacial dysostosis associated with biallelic\n                    <jats:italic>DHODH<\/jats:italic>\n                    variants. Since the identification of the gene in 2010, five case reports have described a variable phenotype in only nine individuals from eight families. We present a cohort of 10 individuals from seven families affected by Miller syndrome, spanning the prenatal stage to 46\u2009years of age. We report on the largest cohort of Miller syndrome to date, which highlights novel findings, including optic atrophy in multiple members of one consanguineous family. The typical postaxial limb defects, including the absence of the 5th digit, were consistent with prior descriptions, but we highlighted the frequent involvement of preaxial structures (thumb and tibial hypoplasia). A higher incidence of camptodactyly and the presence of facial nevus in two patients were notable findings. Congenital heart defects, primarily atrial septal defects, were common, and all living individuals had normal neurodevelopment. This cohort expands the phenotypic spectrum of Miller syndrome associated with variation in\n                    <jats:italic>DHODH<\/jats:italic>\n                    , presenting new findings such as preaxial involvement and facial nevus simplex. Optic atrophy in one family could prompt screening of other cases. Early prenatal diagnosis, particularly in the presence of cardinal limb and cardiac malformations, is crucial for management and genetic counseling.\n                  <\/jats:p>","DOI":"10.1111\/cge.70015","type":"journal-article","created":{"date-parts":[[2025,7,18]],"date-time":"2025-07-18T06:09:01Z","timestamp":1752818941000},"page":"188-193","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8638-2630","authenticated-orcid":false,"given":"Marion","family":"Aubert Mucca","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Purpan, CHU Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Brunelle","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique M\u00e9dicale, ULR7364 RADEME CHU Lille, Univ. Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Doco Fenzy","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Reims  Reims France"},{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nantes  Nantes France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e9mence","family":"Vanlerberghe","sequence":"additional","affiliation":[{"name":"Clinique de g\u00e9n\u00e9tique \u00ab Guy Fontaine \u00bb, ULR7364 RADEME CHU Lille, Univ. Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Dieux","sequence":"additional","affiliation":[{"name":"Clinique de g\u00e9n\u00e9tique \u00ab Guy Fontaine \u00bb, ULR7364 RADEME CHU Lille, Univ. Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Feyereisen","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Reims  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Jobic","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Amiens  Amiens France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Lode","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Reims  Reims France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gwenael","family":"Le Guyader","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Poitiers  Poitiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Petit","sequence":"additional","affiliation":[{"name":"Clinique de g\u00e9n\u00e9tique \u00ab Guy Fontaine \u00bb, ULR7364 RADEME CHU Lille, Univ. Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, Institut de G\u00e9n\u00e9tique M\u00e9dicale h\u00f4pitaux Universitaires de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaoula","family":"Zaafrane\u2010Khachnaoui","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale CHU Nice  Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alban","family":"Ziegler","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Purpan, CHU Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Patat","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale H\u00f4pital Purpan, CHU Toulouse  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,17]]},"reference":[{"issue":"1","key":"e_1_2_14_2_1","first-page":"45","article-title":"An Extensive Form of Mandibulo\u2010Facial Dysostosis","volume":"17","author":"Genee E.","year":"1969","journal-title":"Journal de G\u00e9n\u00e9tique Humaine"},{"issue":"3","key":"e_1_2_14_3_1","first-page":"181","article-title":"Malformation\u2010Retardation Syndrome With Bilateral Absence of the 5th Rays in Both Hands and Feets, Cleft Palate, Malformed Ears and Eyelids, Radioulnar Synostosis (Author's Transl)","volume":"185","author":"Wiedemann H.","year":"1973","journal-title":"Klinische P\u00e4diatrie"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80285-1"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.499"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/BSR20120046"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds218"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2010.03303.x"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3283416701"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.06.008"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2186"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr071"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/eos.12270"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2003.10.003"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.70015","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.70015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T09:02:45Z","timestamp":1779786165000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.70015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,17]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1111\/cge.70015"],"URL":"https:\/\/doi.org\/10.1111\/cge.70015","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.70015\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70015\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70015\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70015\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70015\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.70015\/v1\/review3","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,17]]},"assertion":[{"value":"2025-04-25","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}