Baker Paul A, Aftimos Salim, Anderson Brian J
Department of Anaesthesia, Auckland Children's Hospital, Park Road, Auckland, New Zealand.
Paediatr Anaesth. 2004 Sep;14(9):781-6. doi: 10.1111/j.1460-9592.2004.01284.x.
Nonsyndromal dysgnathia is a rare disorder with a probable genetic basis characterized by a hypoplastic or absent mandible (agnathia), microstomia, microglossia, and ear anomalies secondary to a defect in the ventral portion of the first branchial arch caused by defective neural crest migration or proliferation. Dysgnathic newborn infants often suffer fatal respiratory failure from airway obstruction. Nineteen children with isolated dysgnathia complex are described in the literature--six were stillborn, eight died shortly after birth, and only five survived infancy. All survivors required tracheostomy to maintain an airway. It is difficult to intubate the trachea of these children and early airway management planning is important. We report a neonate who presented with a prenatal ultrasound diagnosis of severe micrognathia, polyhydramnios and a family history of severe micrognathia. Airway management was achieved with fiberoptic intubation through a laryngeal mask airway (LMA) during an ex utero intrapartum treatment procedure. Fiberoptic intubation was hampered by copious amounts of amniotic fluid. This child and her sibling are the first two siblings with isolated dysgnathia complex to have survived infancy and provide further support for a genetic basis to this condition.
非综合征性颌骨发育异常是一种罕见的疾病，可能具有遗传基础，其特征为下颌骨发育不全或缺失（无颌畸形）、小口畸形、小舌畸形以及由于第一鳃弓腹侧部分缺陷导致的耳部异常，该缺陷由神经嵴迁移或增殖缺陷引起。患有颌骨发育异常的新生儿常因气道阻塞而死于致命的呼吸衰竭。文献中描述了19例孤立性颌骨发育异常综合征患儿——6例为死产，8例出生后不久死亡，只有5例存活至婴儿期。所有幸存者都需要气管切开术来维持气道。这些患儿的气管插管困难，早期气道管理规划很重要。我们报告了一名新生儿，产前超声诊断为严重小颌畸形、羊水过多且有严重小颌畸形家族史。在子宫外产时治疗过程中，通过喉罩气道（LMA）进行纤维支气管镜插管实现了气道管理。大量羊水阻碍了纤维支气管镜插管。这名患儿及其兄弟姐妹是首批存活至婴儿期的患有孤立性颌骨发育异常综合征的兄弟姐妹，为该病的遗传基础提供了进一步支持。
