Síndrome Freeman- Sheldon. Presentación de un caso / Freeman- Sheldon syndrome. Presentation of a case
Medimay
; 28(1)Enero, 2021. ilus
Article
in Spanish
| CUMED
| ID: cum-77730
Responsible library:
CU427.1
RESUMEN
El síndrome Freeman-Sheldon es un trastorno congénito poco frecuente, se caracteriza por un estado dismórfico que combina anomalías óseas, articulaciones contracturadas y rasgos faciales típicos. La presentación de este caso tiene como objetivo exponer la importancia del diagnóstico precoz de este síndrome en el primer caso reportado en la provincia de Holguín, lactante femenina que desde el nacimiento presenta la boca fruncida contracturada, con macrostomia que semeja la boca silbante; mentón en forma de H, se acompaña de pies varoequinos bilaterales. Por estas características fenotípicas se realiza el diagnóstico clínicode inmediato y se interconsulta con maxilofacial. Se concluye que es importante el diagnóstico precoz y el seguimiento multidisciplinario, para evitar complicaciones y el logro de la alimentación adecuada, aspectos que permiten mejorar la calidad de vida y realizar un asesoramiento médico acertado a las familias.(AU)
ABSTRACT
Freeman-Sheldon syndrome is a non-frequent congenital disorder, it is characterized by a dimorphic state which combines bone abnormalities, joint contractures and typical facial features. The presentation of this case has the objective to present the importance of theearly diagnosis of this syndrome in the first case reported in Holguín province, female infantwho since she was born presents contracted mouth, with macrostomy that looks like a ¨whistling mouth¨; chin in form of an H, accompanied by bilateral Varo equine feet. For these phenotypic characteristics a clinical diagnosis was performed immediately and she isreferred to the maxillofacial specialist. t can be concluded that the early diagnosis is very important in these cases as well as the multidisciplinary follow-up, to prevent complications and the achievement of the adequate feeding, aspects that permit to improve the life quality and carry out a right medical advice to the families . (AU)
Full text:
Available
Collection:
National databases
/
Cuba
Database:
CUMED
Main subject:
Arthrogryposis
/
Congenital Abnormalities
Limits:
Female
/
Humans
/
Infant
Language:
Spanish
Journal:
Medimay
Year:
2021
Document type:
Article
Institution/Affiliation country:
Centro Provincial de Genética Médica/Cuba