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A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome
Demirkan, Hasan; Kuzdan, Mehmet Özgür.
Afiliação
  • Demirkan, Hasan; University of Health Sciences. Kanuni Sultan Süleyman Training and Research Hospital. Department of Pediatric Urology. İstanbul. Turkey
  • Kuzdan, Mehmet Özgür; University of Health Sciences. Başakşehir Çam and Sakura City Hospital. Department of Pediatric Surgery. Istanbul. Turkey
Arch. esp. urol. (Ed. impr.) ; 75(4): 379-381, May 28, 2022. ilus
Artigo em Inglês | IBECS | ID: ibc-209221
Biblioteca responsável: ES1.1
Localização: ES15.1 - BNCS
ABSTRACT

Objectives:

Robinow syndrome is a very rare syndrome characterized by short stature, extremity deformities, costovertebralabnormalities, renal/external genital malformations, and fetal facial appearance. It might be inherited by either autosomaldominant or severe recessive form. Diagnosis is generally established by the aid of genetic mutation and phenotypic findings.The urogenital component of the disease frequently presents with microgenitalia such as micropenis and/or cryptorchidism.

Methods:

Herein, a four-year-old boy with Robinow syndrome accompanied by incomplete bladder duplication is discussed.

Results:

The duplication in the bladder was screened by cystoscopy and corrective surgery was performed.

Conclusions:

This rare manifestation is the first for urological findings of Robinow syndrome in literature. (AU)
Assuntos

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Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Anormalidades Urogenitais / Anormalidades Craniofaciais / Deformidades Congênitas das Extremidades Inferiores / Nanismo / Rim Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Inglês Revista: Arch. esp. urol. (Ed. impr.) Ano de publicação: 2022 Tipo de documento: Artigo Instituição/País de afiliação: University of Health Sciences/Turkey
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Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Anormalidades Urogenitais / Anormalidades Craniofaciais / Deformidades Congênitas das Extremidades Inferiores / Nanismo / Rim Limite: Criança, pré-escolar / Humanos / Masculino Idioma: Inglês Revista: Arch. esp. urol. (Ed. impr.) Ano de publicação: 2022 Tipo de documento: Artigo Instituição/País de afiliação: University of Health Sciences/Turkey
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