PDF(Pubmed)
Abstract：
Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress. We report a rare case of congenital complete arhinia with alobar holoprosencephaly in a 9-month-old. With no family history of congenital malformations, maternal risk factors and uneventful pregnancy, a term female neonate was delivered vaginally without immediate post-delivery respiratory distress. Examination revealed microcephaly, absent fontanelles, fused cranial sutures and bilateral microphthalmia. Breathing was spontaneous, with no immediate signs of respiratory distress. An additional diagnosis of alobar holoprosencephaly was made after a head computed tomography (CT) scan was done. Management included the initial stabilisation phase of supplemental oxygen and an orogastric tube for feeding. The baby did not require both tracheostomy and gastrostomy tubes, as she was not in severe respiratory distress requiring a tracheostomy tube nor having difficulties feeding with the orogastric tube.
摘要：
先天性紫荆有生命危险,罕见的颅面疾病,which,如果未及早发现和管理，则可能由于上气道阻塞而导致出生时严重的呼吸窘迫。由于新生儿是专性的鼻呼吸器，同时吸吮和呼吸的要求在新生儿与紫荆导致呼吸窘迫。仅通过口腔吸气和呼气可能会导致胸部退缩，从而进一步加剧呼吸窘迫。我们报告了一例罕见的9个月大的先天性完全arhinia伴全前脑畸形的病例。没有先天性畸形家族史,产妇危险因素和顺利怀孕，一个足月女性新生儿经阴道分娩,分娩后没有立即出现呼吸窘迫.检查发现小头畸形,缺少fontanelles，融合颅骨缝合和双侧小眼症。呼吸是自发的，没有立即呼吸窘迫的迹象。在进行头部计算机断层扫描（CT）扫描后，对alobar全前脑畸形进行了其他诊断。管理包括补充氧气的初始稳定阶段和用于喂养的口胃管。婴儿不需要气管造口术和胃造口术管，因为她没有严重的呼吸窘迫，需要气管造口管，也没有用口胃管进食困难。
