{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T19:42:22Z","timestamp":1785872542926,"version":"3.56.0"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T00:00:00Z","timestamp":1573084800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Pseudohypoparathyroidism (PHP, OMIM #103580) is a very rare disease (incidence 0.3\u20131\/100,000). Heterozygous inactivating mutations involving the maternal GNAS exons 1\u201313 that encodes the alpha subunit of the stimulatory G protein (Gs\u03b1) cause inactivating parathyroid hormone (PTH)\/PTHrP signalling disorder type 2 (iPPSD2 or PHP type 1A), which is characterized by Albright hereditary osteodystrophy and resistance to multiple hormones that act through the Gs\u03b1 signalling pathway (including PTH, thyroid-stimulating hormone, and \u03b1-melanocyte-stimulating hormone). To date, little information is available on craniofacial features in patients with PHP. The small number of patients studied in previous reports as well as the lack of molecular characterization of the patients may have precluded the detection of specific orofacial manifestations in the different PHP subtypes.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Materials\/Methods<\/jats:title>\n                  <jats:p>We conducted a systematic analysis of dental and craniofacial features in 19 patients with iPPSD2 and maternal GNAS inactivating mutations to assess the frequency and specificity of the anomalies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Facial examinations showed reduced vertical, sagittal, and transverse development of the mid-facial structures. Intraoral and radiographic examinations revealed that 89 per cent of the patients had at least one dental anomaly, including tooth submergence leading to severe infraocclusion in 83 per cent of cases. Craniofacial analysis of lateral cephalometric radiographs also showed a significant alteration in the development of the cranial base and maxillary and mandibular structures in these patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Patients with iPPSD2 and maternal GNAS mutations had specific craniofacial alterations and dental abnormalities. These specific defects should be assessed in order to provide appropriate dental and orthodontic care to these patients. (clinical trial registration: 1920371 v 0, French Nationale Data Processing and Liberties Commission - CNIL).<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejo\/cjz084","type":"journal-article","created":{"date-parts":[[2019,10,3]],"date-time":"2019-10-03T19:27:18Z","timestamp":1570130838000},"page":"525-533","source":"Crossref","is-referenced-by-count":12,"title":["Dental and craniofacial features associated with GNAS loss of function mutations"],"prefix":"10.1093","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5664-9963","authenticated-orcid":false,"given":"Elvire","family":"Le Norcy","sequence":"first","affiliation":[{"name":"APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Fili\u00e8re OSCAR, Bretonneau Hospital, HUPNVS, Paris"},{"name":"Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Montrouge"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Reggio-Paquet","sequence":"additional","affiliation":[{"name":"APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Fili\u00e8re OSCAR, Bretonneau Hospital, HUPNVS, Paris"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"de Kerdanet","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Department, H\u00f4pital Sud CHU, Rennes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Mignot","sequence":"additional","affiliation":[{"name":"Paediatric Department, Centre Hospitalier Regional Universitaire, Hopital Jean Minjoz, Besancon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[{"name":"APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Fili\u00e8re OSCAR and Plateforme d\u2019Expertise Maladies Rares Pa\u00earis-Sud, Bic\u00eatre Paris Sud Hospital, Le Kremlin Bicetre"},{"name":"APHP, Endocrinology and Diabetes for Children, Bic\u00eatre Paris Sud Hospital, Le Kremlin Bic\u00eatre"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Chaussain","sequence":"additional","affiliation":[{"name":"APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Fili\u00e8re OSCAR, Bretonneau Hospital, HUPNVS, Paris"},{"name":"Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Montrouge"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[{"name":"APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Fili\u00e8re OSCAR and Plateforme d\u2019Expertise Maladies Rares 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