De Bernardo Giuseppe, Giordano Maurizio, Di Toro Antonino, Sordino Desiree, De Brasi Daniele
Department of Emergency, NICU-AORN Santobono-Pausilipon, Napoli, Italy.
Pediatrician Systematic, AORN Santobono-Pausilipon, Napoli, Italy.
Ital J Pediatr. 2015 Nov 9;41:86. doi: 10.1186/s13052-015-0195-6.
Fraser Syndrome is a rare, autosomal recessive syndrome. It's characterized primarily by cryptophthalmos, syndactyly and urogenital malformation. Respiratory malformations are frequently present and not taken into account. To better manage childbirth at the time of delivery it is crucial to get prenatal diagnosis early on in the pregnancy.
We are reporting a female infant born by natural birth with 46,XX. She was characterized phenotypically by cryptophthalmos, syndactyly, bilateral microtia and ambiguous genitalia. A prenatal ultrasound didn't revealed or raised any suspects for the Fraser Syndrome. It only discovered a unilateral kidney agenesis. At birth the infant showed a severe respiratory distress, intubation was attempted but it failed. The baby was transferred to Santobono-Pausilipon III level hospital. A tracheostomy was performed successfully and saved her life. Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior. Genetic test revealed the typical mutations in the gene FREM2 confirming the diagnosis of Fraser Syndrome. In her fourth month, after birth, the infant was subjected to an operation to reconstruct eyelids with a mucous membrane graft. The left renal function was normal. The baby showed a delay in motor milestones for visual impairment. At the 19(th) month fallow-up, during a magnetic resonance it was revealed: a normal morphologic brain development, a thin presence in the right optic nerve and the visual cortex were developing.
The prenatal diagnosis of Fraser Syndrome is frequently possible. The prenatal ultrasound can reveal features like polyhydramnios or oligohydramnios, echogenic lungs, renal abnormalities or agenesis and cryptophthalmos that are pathognomonic of the Fraser Syndrome. The health providers must keep in mind that if there are suspects of the Fraser Syndrome during prenatal exams, the infants could have a severe malformation in the respiratory tract.
弗雷泽综合征是一种罕见的常染色体隐性综合征。其主要特征为隐眼畸形、并指（趾）畸形和泌尿生殖系统畸形。呼吸系统畸形也经常出现但未被考虑在内。为了在分娩时更好地处理分娩情况，在孕期尽早进行产前诊断至关重要。
我们报告一名自然分娩的女婴，核型为46,XX。其表型特征为隐眼畸形、并指（趾）畸形、双侧小耳畸形和生殖器模糊。产前超声未发现或引发对弗雷泽综合征的任何怀疑。仅发现单侧肾缺如。出生时婴儿出现严重呼吸窘迫，尝试插管但失败。婴儿被转至桑托博诺 - 帕西里蓬三级医院。成功进行了气管切开术并挽救了她的生命。计算机断层扫描显示左眼小眼畸形，右眼眼球有类似脉络膜缺损的畸形，伴有囊肿和顶叶前部小钙化。基因检测揭示了FREM2基因的典型突变，确诊为弗雷泽综合征。出生后第四个月，婴儿接受了用黏膜移植重建眼睑的手术。左肾功能正常。婴儿因视力障碍在运动发育里程碑方面出现延迟。在第19个月随访时，磁共振成像显示：脑形态发育正常，右侧视神经较细，视觉皮层正在发育。
弗雷泽综合征的产前诊断通常是可行的。产前超声可揭示羊水过多或过少、肺回声增强、肾脏异常或缺如以及隐眼畸形等弗雷泽综合征的特征性表现。医疗服务提供者必须牢记，如果在产前检查中怀疑有弗雷泽综合征，婴儿可能存在严重的呼吸道畸形。
