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2021, Number 02

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MediSan 2021; 25 (02)

Robinow syndrome associated with chronic kidney failure in terminal stage

Fernández RY, Sardina SRM, García ZH
Full text How to cite this article

Language: Spanish
References: 10
Page: 460-469
PDF size: 694.62 Kb.


Key words:

Robinow syndrome, chronic renal insufficiency, chronic kidney failure, renal dialysis.

ABSTRACT

The case report of an 18 years adolescent is described with pathological history of a surgery due to hypertelorism in his first year of life who was assisted in the Nephrology Service of Dr. Juan de la Cruz Martínez Maceira Northern Teaching Children Hospital in Santiago de Cuba, due to a marked decrease of the renal function, reason why he required substitute therapies. His condition persisted for more than 3 months and it was considered as a chronic kidney failure in end stage. Several complementary exams were carried out to find out the cause and other specialties participated in the diagnosis, as Clinical Genetics, due to the presence of dysmorphic disorders; finally, Robinow syndrome was diagnosed. The patient remained with hemodialysis for 2 years until her condition was stable to receive a renal transplant.


REFERENCES

  1. Da Silva de Magalhães MJ, Jin Fujioka A, Barbosa Chaves R, Juárez Montero D. Síndrome de Robinow. Relato de caso y revisión de la literatura. Rev Chil Neurocirugía. 2017;43:134-7.

  2. Hosseini-Farahabadi S, Gignac SJ, Danescu A, Fu K, Richman JM. Abnormal WNT5A Signaling Causes Mandibular Hypoplasia in Robinow Syndrome. J Dent Res. 2017;96(11):1265-72.

  3. Rath A. Prevalencia de las enfermedades raras: Datos bibliográficos. Lista por orden de prevalencia decreciente o por número de casos o familias publicados. Informes Periódicos de Orphanet. 2020 [citado 10/05/2020];(2). Disponible en: https://www.orpha.net/orphacom/cahiers/docs/ES/Prevalencia_de_las_enfermedades_raras_por_prevalencia_decreciente_o_casos.pdf

  4. Basman A, Akay G, Peker I, Gungor K, Akarslan Z, Ozcan S, et al. Dental management and orofacial manifestations of a patient with Robinow Syndrome. J Istanb Univ Fac Dent. 2017;51(2):43-8.

  5. Jain PS, Gupte TS, Jetpurwala AM, Pratik Dedhia S. Robinow Syndrome and Fusion of Primary Teeth. Contemp Clin Dent. 2017;8(3):479-81.

  6. Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, et al. Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome. Am J Hum Genet. 2015;96(4):623-30.

  7. Jeppesen BF, Hove HB, Kreiborg S, Hermann NV, Darvann TA, Jørgensen FS. Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound. Clin Case Rep. 2017;5(7):1072-6.

  8. Alfonzo Guerra JP. Nefrología. La Habana: Editorial Ciencias Médicas; 2016.

  9. Mishra S, Kumar Agarwalla S, Pradhan S. Robinow Syndrome: A Rare Diagnosis. J Clin Diagn Res. 2015 [citado 10/05/2020];9(12):SD04-5. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717695/pdf/jcdr-9-SD04.pdf

  10. White J, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, et al. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016;98(3):553-61.




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