{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T19:20:31Z","timestamp":1775071231180,"version":"3.50.1"},"posted":{"date-parts":[[2024,7,4]]},"group-title":"In Review","reference-count":37,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T00:00:00Z","timestamp":1720051200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,6,14]]},"abstract":"<title>Abstract<\/title>\n                <p>\n                  BACKGROUND\nOrofacial clefts (OFC) are common congenital craniofacial malformations that can occur isolated or in association with multiple syndromes.\nPierre Robin Syndrome (PRS) is characterized by micrognathia, glossoptosis and airway obstruction. Cleft palate is present in most cases.\nThe aim was to describe clinical characteristics of patients with PRS and compare them with the group without PRS of the same cohort of patients with OFC.\nMETHODS\nRetrospective analysis of the medical records of patients who attended the Cleft Lip and Palate Multidisciplinary Group at a tertiary care Hospital, during the last 30 years.\nThe OFCs types were listed according to the Spina classification modified by Silva-Filho\n                  <italic>et al.<\/italic>\n                  . Family history, prenatal diagnosis, associated syndromes and malformations were collected and compared between the two groups.\nRESULTS\nThe cohort included 681 patients with OFC. The most frequent recognizable syndrome was PRS, affecting 10% of the population (n=69). Patients from the PRS-group were mostly female (59.4%), unlike the non-PRS-group (41.0%). Most of the OFC in the PRS group were isolated cleft palate in midline (94.2%), which were only detected in approximately one third of the non-PRS patients. Prenatal diagnosis was significantly less frequent in the PRS-group (11.6% vs. 33.8%, p &lt; 0.001). The proportion of known family history was similar in both groups (29.0% in PRS group, 26.1% in non-PRS group, p = 0.666). PRS patients presented a higher frequency of syndromic diagnosis (36.2% vs. 20.8%, p = 0.003) and associated congenital malformations (55.1% vs. 36.3%, p = 0.002). From these, ocular, cardiovascular and cranioencephalic anomalies were significantly more frequent in the presence of PRS (34.8% vs. 16.3%; 34.8% vs. 15.4%; and 33.3% vs. 10.9%), while uro-nephrological malformations were similar in both groups. The most common syndromes associated with PRS were Stickler (n=4, 5.8%) and Treacher Collins (n=4, 5.8%).\nCONCLUSIONS\nPRS patients demonstrated a distinct clinical profile compared to non-PRS patients, including higher rates of isolated cleft palate in the midline, lower prenatal diagnosis rates, and a higher frequency of other syndromes and associated congenital malformations. These findings highlight the importance of customized diagnosis, treatment, and follow-up strategies for this particular subgroup of OFC patients.\n                <\/p>","DOI":"10.21203\/rs.3.rs-4578554\/v1","type":"posted-content","created":{"date-parts":[[2024,7,4]],"date-time":"2024-07-04T01:55:21Z","timestamp":1720058121000},"source":"Crossref","is-referenced-by-count":1,"title":["Pierre Robin Syndrome in an Orofacial Cleft Cohort: Comparition of Clinical Characteristics"],"prefix":"10.21203","author":[{"given":"Laura Leite","family":"de Almeida","sequence":"first","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o"}]},{"given":"In\u00eas","family":"Pais-Cunha","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o"}]},{"given":"Tatiana","family":"Moreira","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o"}]},{"given":"Ana","family":"Maia","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o"}]},{"given":"Carla Pinto","family":"Moura","sequence":"additional","affiliation":[{"name":"Unidade Local de Sa\u00fade de S\u00e3o Jo\u00e3o"}]}],"member":"297","reference":[{"issue":"9703","key":"ref1","doi-asserted-by":"publisher","first-page":"1773","DOI":"10.1016\/S0140-6736(09)60695-4","article-title":"Cleft lip and palate","volume":"374","author":"Mossey PA","year":"2009","unstructured":"Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. 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