Teebi A S, Hassoon M M
Kuwait Medical Genetics Centre, Maternity Hospital.
Am J Med Genet. 1991 Aug 1;40(2):199-200. doi: 10.1002/ajmg.1320400215.
The urofacial syndrome is an autosomal recessive disorder of distorted facial expression and neurogenic bladder with resultant urogenital tract damage. We report on an 8-year-old boy of consanguineous Arab parents with inverted facial expression upon laughing and renal changes as a consequence of a neurogenic bladder in addition to hydrocephalus due to stenosis of the aqueduct of Sylvius. We suggest that the association is not fortuitous and probably widens the spectrum of urofacial syndrome or represents a distinct entity mimicking the urofacial syndrome.
面尿综合征是一种常染色体隐性疾病，表现为面部表情扭曲及神经源性膀胱，进而导致泌尿生殖道损害。我们报告了一名8岁男孩，其父母为近亲结婚的阿拉伯人。该男孩笑时面部表情倒置，因神经源性膀胱出现肾脏改变，此外还因中脑导水管狭窄患有脑积水。我们认为这种关联并非偶然，可能拓宽了面尿综合征的范围，或者代表了一种类似面尿综合征的独特病症。
