Marfan syndrome. A case presentation
DOI:
https://doi.org/10.59471/ijhsc2024127Keywords:
Marfan syndrome, ClinicAbstract
A patient with Marfan Syndrome was reported, a rare entity, was presented; with the aim of highlighting that despite the fact that the disease is infrequent, if it is present it is diagnosed, a 14-year-old patient who came to the clinic for precordial pain when doing physical exercises and shortness of breath, during the interrogation it was discovered that he had a family history of thoracic malformations, it was also found that she had a pectus excavatum-type thoracic deformity, joint laxity with a positive wrist sign, flat feet, diastolic murmur in aortic focus, the complementary tests revealed a pectus excavatum-type deformity of the sternum in the chest X-ray, echocardiography found a dilation of the aortic root with slight aortic insufficiency, when examined by ophthalmology it was evidenced that she had ectopia of the lens, Therefore, the diagnosis was made according to the Ghent criteria, as well as we made some differential diagnoses with the aim of ruling out other diseases
References
- Wright MJ, Connolly HM. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. In: UpToDate, Dietz HC (Ed), UpToDate, Waltham, MA. (Accessed on July 23, 2023.)
- Síndrome de Marfan. Causas [Internet]. NHLBI, NIH. 03 de mayo de 2022 [citado el 13 de agosto de 2023]. Disponible en: https://www.nhlbi.nih.gov/es/salud/sindrome-de-marfan/causas
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome Journal of Medical Genetics 2010; 47:476-485.
- Loeys B, De Backer J, Van Acker P, et al. El cribado molecular completo del gen FBN1 favorece la homogeneidad del locus del síndrome de Marfan clásico. Hummutat 2004; 24:140.
- Glesby MJ, Pyeritz RE. Asociación de prolapso de válvula mitral y anomalías sistémicas del tejido conectivo. Un continuo fenotípico. JAMA 1989; 262:523.
- Callewaert BL, Loeys BL, Ficcadenti A, et al. Evaluación clínica y molecular integral de 32 probandos con aracnodactilia contractural congénita: informe de 14 mutaciones novedosas y revisión de la literatura. Hummutat 2009; 30:334.
- Picker JD, Levy HL (Actualizado [29 de marzo de 2006]). Homocistinuria causada por deficiencia de cistationina beta-sintasa. En: Gene Reviews en GeneTests: Medical Genetics Information Resource (base de datos en línea). Universidad de Washington, Seattle. 2006. Disponible en http://www.genetests.org. Consultado [10 de agosto de 2023].
- Blackburn PR, Xu Z, Tumelty KE, et al. Las alteraciones bialélicas en AEBP1 conducen a un ensamblaje defectuoso del colágeno y una estructura del tejido conjuntivo que da como resultado una variante del síndrome de Ehlers-Danlos. Soy J Hum Genet 2018; 102:696.
- Sirko-Osadsa DA, Murray MA, Scott JA, et al. El síndrome de Stickler sin compromiso ocular es causado por mutaciones en COL11A2, el gen que codifica la cadena alfa2 (XI) del colágeno tipo XI. J Pediatr 1998; 132:368.
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Copyright (c) 2024 Manuel Conrado Ezcurdia Barzaga, Carlos Alejandro Troya Altamirano , Evelyn Carolina Betancourt Rubio (Author)
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