Chitayat D, Hodgkinson K A, Chen M F, Haber G D, Nakishima S, Sando I
Department of Pediatrics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Am J Med Genet. 1992 Aug 1;43(6):970-5. doi: 10.1002/ajmg.1320430613.
We report on a woman who was diagnosed with branchio-oto-renal (BOR) syndrome after 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. Maternal renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The frequency of BOR syndrome among cases of recurrent fetal renal hypoplasia/dysplasia or agenesis is unknown, and parental renal ultrasonography may not identify a heritable renal defect. Investigations should include a family history, and examination of relatives to look for preauricular pits, lacrimal duct stenosis, and branchial fistulae and/or cysts. Hearing studies and IVP may be indicated.
我们报告了一名女性，她在两次妊娠因肾发育不全和肾缺如并发羊水过少后，被诊断为鳃-耳-肾（BOR）综合征。两个婴儿均在新生儿期死于肺发育不全。第二个孩子颞骨的组织病理学显示中耳裂、听小骨、面神经和神经管以及蜗神经明显不成熟。尽管静脉肾盂造影显示肾发育不全，但母亲的肾脏超声检查正常。复发性胎儿肾发育不全/发育异常或肾缺如病例中BOR综合征的发生率尚不清楚，父母的肾脏超声检查可能无法识别遗传性肾脏缺陷。检查应包括家族史，并检查亲属以寻找耳前凹、泪管狭窄以及鳃瘘和/或囊肿。可能需要进行听力研究和静脉肾盂造影。
