Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]
DOI:
https://doi.org/10.15417/677Keywords:
Síndrome de Grebe, osteocondrodisplasia, displasia, acromesomélico. Grebe syndrome, osteochondrodysplasia, dysplasia, acrosomelic.Abstract
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y superiores. Conocer este tipo de síndrome orienta a dar mejores diagnósticos y permite el diagnóstico diferencial con patologías más comunes, como la acondroplasia. Se presenta una paciente de 35 años con diagnóstico de síndrome de Grebe desde los 10 años. El síndrome de Grebe tiene una muy baja incidencia; por este motivo, es poco conocido por el cuerpo médico en general y aun menos para los ortopedistas, quienes serán los encargados de tratar a estos pacientes.
Abstract
Grebe syndrome is a rare autosomal recessive disorder that belongs to the group of osteochondrodysplasias. Clinically, it is characterized by severe dysmorphism, marked micromelia and deformities of the lower and upper limbs. Recognition of this syndrome allows to give better diagnoses and to establish a differential diagnosis with more common pathologies, such as achondroplasia. We present a 35-year-old woman with diagnosis of Grebe syndrome at the age of 10. Grebe syndrome has a very low incidence; therefore, it is unknown by general physicians and still less by orthopedic surgeons, who will treat these patients.
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References
Faivre L., Coermier Daire V. Acromesomelic dysplasia, Grebe type. Orphanet encyclopedia. En http://www.orpha.net/data/patho/GB/uk-grebe05.pdf; feb 2005.
Costa T, Ramsby G, Cassia F. Grebe syndrome: Clinical and radiographic findings in affected individuals and heterozygous carries. Am J Med Genet 1988: 75: 523/529. DOI: https://doi.org/10.1002/(SICI)1096-8628(19980217)75:5<523::AID-AJMG13>3.0.CO;2-M
Baraitser M, Winter RM. Oxford: Oxford University Press; 2009. London Dysmorphology Database, London Medical Databases.
Du Pan CM. Absence congenitale du perone sans deformation du tibia: Curieuses deformations congenitales des mains. Rev Orthop. 1924;11:227–34.
Langer LOE, Jr, Cervenka J, Camargo M. A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. Hum Genet.1989;81:323–8. DOI: https://doi.org/10.1007/BF00283684
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