Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report
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. Clinical case: Female patient, one year and three months old, prese...
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2025
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/45341 |
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I10-R327-article-45341 |
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Universidad Nacional de Córdoba |
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Revista de la Facultad de Ciencias Médicas de Córdoba |
| language |
Inglés |
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Artículo revista |
| topic |
x-ray cri du chat syndrome hip dislocation, congenital knee dislocation pediatrics orthopedics rayos x síndrome del maullido del gato luxacion congenita de la cadera luxacion de la rodilla pediatria ortopedia radiografía dindrome de cri du chat luxação congênita dos quadris luxação do joelho pediatria ortopedia |
| spellingShingle |
x-ray cri du chat syndrome hip dislocation, congenital knee dislocation pediatrics orthopedics rayos x síndrome del maullido del gato luxacion congenita de la cadera luxacion de la rodilla pediatria ortopedia radiografía dindrome de cri du chat luxação congênita dos quadris luxação do joelho pediatria ortopedia Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| topic_facet |
x-ray cri du chat syndrome hip dislocation, congenital knee dislocation pediatrics orthopedics rayos x síndrome del maullido del gato luxacion congenita de la cadera luxacion de la rodilla pediatria ortopedia radiografía dindrome de cri du chat luxação congênita dos quadris luxação do joelho pediatria ortopedia |
| author |
Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís |
| author_facet |
Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís |
| author_sort |
Graça, Natã Nascimento de Jesus |
| title |
Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| title_short |
Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| title_full |
Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| title_fullStr |
Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| title_full_unstemmed |
Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report |
| title_sort |
cri du chat syndrome and congenital dislocation of the hips and knees: case report |
| description |
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.
Clinical case: Female 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.
Results: 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° flexion), in addition to a negative Lachmann test.
Conclusion: 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. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2025 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/45341 |
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I10-R327-article-453412025-06-27T16:50:27Z Cri du Chat Syndrome and congenital dislocation of the hips and knees: case report Síndrome del Maullido del Gato y luxación congénita de caderas y rodillas: reporte de caso Síndrome de Cri du Chat e luxação congênita de quadris e joelhos: relato de caso Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís Graça, Natã Nascimento de Jesus Ribeiro, Maria Luiza Alessi Duarte, Márcio Luís x-ray cri du chat syndrome hip dislocation, congenital knee dislocation pediatrics orthopedics rayos x síndrome del maullido del gato luxacion congenita de la cadera luxacion de la rodilla pediatria ortopedia radiografía dindrome de cri du chat luxação congênita dos quadris luxação do joelho pediatria ortopedia 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. Clinical case: Female 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. Results: 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° flexion), in addition to a negative Lachmann test. Conclusion: 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. Introducción: El síndrome de Cri Du Chat (CdCS) es un trastorno genético autosómico que implica la deleción total o parcial del brazo corto del cromosoma 5 (5p). El tamaño de la deleción de CdCS varía de aproximadamente 10 a 45 Mb. Caso clínico: Paciente femenina de un año y tres meses de edad, presenta hiperextensión de rodillas. Al examen físico el paciente presenta paladar hendido bilateral, ausencia de paladar blando, labio hendido y traqueotomía, signo de Hart positivo, signo de Peter Bade negativo y rodillas fijas retrocurvadas con rango de movimiento limitado. Las radiografías revelan luxación bilateral de cadera y luxación de rodilla. El análisis de cariotipo confirma el diagnóstico de CdCS. Resultados: Se realizó cirugía para liberación lateral de la cápsula articular de la rodilla, alargamiento del tendón del cuádriceps, capsuloplastia y reducción cerrada de la articulación de la rodilla, seguida de aplicación de un apósito copediátrico con flexión de la rodilla. Después de dos meses enyesado, se inició fisioterapia. Aproximadamente tres meses después de la cirugía, el paciente presentó una incisión quirúrgica cicatrizada, extensión completa de la rodilla y flexión casi completa (100° de flexión), además de una prueba de Lachmann negativa. Conclusión: La presencia de múltiples anomalías congénitas constituye un cuadro clínico excepcionalmente único. Es crucial enfatizar que la luxación congénita de caderas y rodillas en este paciente es particularmente rara y no se ha descrito en la literatura médica entre pacientes con CdCS. Introdução: A Síndrome de Cri Du Chat (CdCS) é uma doença genética autossômica que envolve a deleção completa ou parcial do braço curto do cromossomo 5 (5p). O tamanho da deleção de CdCS varia de aproximadamente 10-45 Mb. Caso clínico: Paciente do sexo feminino, com um ano e três meses de idade, apresenta hiperextensão dos joelhos. Ao exame físico, o paciente apresenta fissura palatina bilateral, ausência de palato mole, fissura labial e traqueostomia, sinal de Hart positivo, sinal de Peter Bade negativo e joelhos retrocurvados fixos com amplitude de movimento limitada. As radiografias revelam luxação bilateral do quadril e luxação do joelho. A análise do cariótipo confirma o diagnóstico de CdCS. Resultados: Foi realizada cirurgia paraliberação lateral da cápsula articular do joelho, alongamento do tendão quadríceps, capsuloplastia e redução fechada da articulação do joelho, seguida de aplicação de gesso co-pediátrico com flexão do joelho. Após dois meses com gesso, foi iniciada fisioterapia. Aproximadamente três meses após a cirurgia, o paciente apresentou incisão cirúrgica cicatrizada, extensão total do joelho e flexão quase completa (flexão de 100°), além de teste de Lachmann negativo. Conclusão: A presença de múltiplas anomalias congênitas constitui um quadro clínico excepcionalmente único. É crucial enfatizar que a luxação congênita de quadris e joelhos neste paciente é particularmente rara e não foi descrita na literatura médica entre pacientes com SCdC. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2025-06-26 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion text/html application/pdf https://revistas.unc.edu.ar/index.php/med/article/view/45341 10.31053/1853.0605.v82.n2.45341 Revista de la Facultad de Ciencias Médicas de Córdoba.; ##issue.vol## 82 ##issue.no## 2 (2025); 399-408 Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 82 Núm. 2 (2025); 399-408 Revista da Faculdade de Ciências Médicas de Córdoba; v. 82 n. 2 (2025); 399-408 1853-0605 0014-6722 10.31053/1853.0605.v82.n2 eng https://revistas.unc.edu.ar/index.php/med/article/view/45341/49393 https://revistas.unc.edu.ar/index.php/med/article/view/45341/49392 Derechos de autor 2025 Universidad Nacional de Córdoba https://creativecommons.org/licenses/by-nc/4.0 |