RESUMO
OBJECTIVES: Robinow syndrome is a very rare syndrome characterized by short stature, extremity deformities, costovertebral abnormalities, renal/external genital malformations, and fetal facial appearance. It might be inherited by either autosomal dominant 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.
Assuntos
Anormalidades Craniofaciais , Nanismo , Deformidades Congênitas dos Membros , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Nanismo/complicações , Nanismo/diagnóstico , Nanismo/genética , Humanos , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Masculino , Síndrome , Bexiga Urinária , Anormalidades UrogenitaisRESUMO
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)
