A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome
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)
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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