Abstract：
OBJECTIVE: 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.
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.
摘要：
目的：Robinow综合征是一种非常罕见的以身材矮小为特征的综合征，四肢畸形,脊椎异常,肾/外生殖器畸形，和胎儿的面部外观。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建立。该疾病的泌尿生殖成分经常表现为微生殖器，例如微阴茎和/或隐睾。
方法：这里，讨论了一个患有Robinow综合征并伴有不完全膀胱重复的四岁男孩。
结果：通过膀胱镜检查筛查膀胱重复，并进行矫正手术。
结论：这种罕见的表现是文献中首次发现Robinow综合征的泌尿科表现。
方法：这里，讨论了一个患有Robinow综合征并伴有不完全膀胱重复的四岁男孩。
结果：通过膀胱镜检查筛查膀胱重复，并进行矫正手术。
结论：这种罕见的表现是文献中首次发现Robinow综合征的泌尿科表现。
