一种非常罕见的综合征及其罕见的泌尿系统并发症：Robinow 综合征中的不完全性膀胱重复。
A very rare syndrome and its rare urological complication: Incomplet bladder duplication in Robinow syndrome.
机构信息
Department of Pediatric Urology, University of Health Sciences, Kanuni Sultan Süleyman Training and Research Hospital, İstanbul, Turkey.
Department of Pediatric Surgery, University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey.
出版信息
Arch Esp Urol. 2022 May 28;75(4):379-381. doi: 10.56434/j.arch.esp.urol.20227504.55.
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.
目的
罗宾诺综合征是一种非常罕见的综合征，其特征为身材矮小、四肢畸形、肋椎异常、肾/外生殖器畸形和胎儿面部特征。它可能通过常染色体显性或严重隐性形式遗传。诊断通常通过基因突变和表型发现来确定。该疾病的泌尿生殖成分常表现为小阴茎和/或隐睾等小生殖器。
方法
本文讨论了一例伴有不完全性膀胱重复畸形的罗宾诺综合征 4 岁男孩。
结果
通过膀胱镜检查筛查出膀胱重复畸形，并进行了矫正手术。
结论
这种罕见表现是文献中首次报道的罗宾诺综合征的泌尿学发现。
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