{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T13:27:56Z","timestamp":1780493276251,"version":"3.54.1"},"reference-count":7,"publisher":"Universidad Nacional de C\u00f3rdoba","issue":"2","license":[{"start":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T00:00:00Z","timestamp":1750896000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Fac Cien Med Univ Nac Cordoba"],"abstract":"<jats:p>Introduction: Cri Du Chat Syndrome (CdCS) is an autosomal genetic disorder involving the complete or partial deletion of the short arm of chromosome 5 (5p). The size of the CdCS deletion ranges from approximately 10-45 Mb.\r\nClinical case: \u00a0Female patient, one year and three months old, presents hyperextension of the knees. On physical examination, the patient presents bilateral cleft palate, absence of soft palate, cleft lip and tracheostomy, positive Hart sign, negative Peter Bade sign and fixed retrocurved knees with limited range of motion. Radiographs reveal bilateral hip dislocation and knee dislocation. Karyotype analysis confirms the diagnosis of CdCS.\r\nResults: Surgery was performed to laterally release the knee joint capsule, lengthen the quadriceps tendon, capsuloplasty and closed reduction of the knee joint, followed by application of a co-pediatric plaster with knee flexion. After two months in a cast, physiotherapy was started. Approximately three months after surgery, the patient presented a healed surgical incision, full knee extension and almost complete flexion (100\u00b0 flexion), in addition to a negative Lachmann test.\r\nConclusion: The presence of multiple congenital anomalies constitutes an exceptionally unique clinical picture. It is crucial to emphasize that congenital dislocation of the hips and knees in this patient is particularly rare and has not been described in the medical literature among CdCS patients.<\/jats:p>","DOI":"10.31053\/1853.0605.v82.n2.45341","type":"journal-article","created":{"date-parts":[[2025,6,26]],"date-time":"2025-06-26T16:20:33Z","timestamp":1750954833000},"page":"399-408","source":"Crossref","is-referenced-by-count":1,"title":["Cri du Chat Syndrome and congenital dislocation of the hips and knees","S\u00edndrome del Maullido del Gato y luxaci\u00f3n cong\u00e9nita de caderas y rodillas","S\u00edndrome de Cri du Chat e luxa\u00e7\u00e3o cong\u00eanita de quadris e joelhos"],"prefix":"10.31053","volume":"82","author":[{"given":"Nat\u00e3 Nascimento de Jesus","family":"Gra\u00e7a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luiza Alessi","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcio Lu\u00eds","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"12333","published-online":{"date-parts":[[2025,6,26]]},"reference":[{"key":"ref0","doi-asserted-by":"publisher","unstructured":"1. Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo M\u00c1, Rodr\u00edguez-Caballero \u00c1, Machuca-Portillo G. A systematic review of the oral and craniofacial manifestations of cri du chat syndrome. Clin Anat. 2016 Jul;29(5):555-60. doi: 10.1002\/ca.22654.","DOI":"10.1002\/ca.22654"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"2. Kaymak D, Alpay V, Erenel H, Adaletli \u0130, Comunoglu N, Madazli R. Prenatal Diagnosis of 5p Deletion Syndrome with Brain Abnormalities by Ultrasonography and Fetal Magnetic Resonance Imaging: A Case Report. Fetal Pediatr Pathol. 2020 Oct;39(5):446-451. doi: 10.1080\/15513815.2019.1669230.","DOI":"10.1080\/15513815.2019.1669230"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"3. Traisrisilp K, Yanase Y, Ake-Sittipaisarn S, Tongsong T. Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review. Diagnostics (Basel). 2022 Feb 6;12(2):421. doi: 10.3390\/diagnostics12020421.","DOI":"10.3390\/diagnostics12020421"},{"key":"ref3","unstructured":"4. Nandhagopal R, Udayakumar AM. Cri-du-chat syndrome. Indian J Med Res. 2014;140(4):570-1."},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"5. Cuming L, Diamond D, Amirfeyz R, Gargan M. Cri du Chat syndrome. Orthop. Trauma. 2010 Apr;24(2):164-166.","DOI":"10.1016\/j.mporth.2009.11.002"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"6. Saito N, Ebara S, Fukushima Y, Wakui K, Takaoka K. Progressive scoliosis in cri-du-chat syndrome over a 20-year follow-up period: a case report. Spine (Phila Pa 1976). 2001 Apr 1;26(7):835-7. doi: 10.1097\/00007632-200104010-00028.","DOI":"10.1097\/00007632-200104010-00028"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"7. Y\u00e1\u00f1ez-Vico RM, Rodr\u00edguez-Caballero A, Iglesias-Linares A, Guerra-L\u00f3pez N, Torres-Lagares D, Machuca-Portillo G, Solano-Reina E, Guti\u00e9rrez-P\u00e9rez JL. Craniofacial characteristics in cri-du-chat syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 Dec;110(6):e38-44. doi: 10.1016\/j.tripleo.2010.08.021.","DOI":"10.1016\/j.tripleo.2010.08.021"}],"container-title":["Revista de la Facultad de Ciencias M\u00e9dicas de C\u00f3rdoba"],"original-title":[],"link":[{"URL":"http:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/45341\/49393","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/45341\/49392","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/download\/45341\/49392","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T19:38:48Z","timestamp":1766432328000},"score":1,"resource":{"primary":{"URL":"http:\/\/revistas.unc.edu.ar\/index.php\/med\/article\/view\/45341"}},"subtitle":["case report","reporte de caso","relato de caso"],"short-title":[],"issued":{"date-parts":[[2025,6,26]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,6,26]]}},"URL":"https:\/\/doi.org\/10.31053\/1853.0605.v82.n2.45341","relation":{},"ISSN":["1853-0605","0014-6722"],"issn-type":[{"value":"1853-0605","type":"electronic"},{"value":"0014-6722","type":"print"}],"subject":[],"published":{"date-parts":[[2025,6,26]]}}}