Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil.
Rev Paul Pediatr. 2021 May 26;40:e2020153. doi: 10.1590/1984-0462/2022/40/2020153. eCollection 2021.
To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications.
This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation.
Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.
描述一例颅面短小畸形伴呼吸窘迫反复发作的婴儿病例，该婴儿合并右位异常锁骨下动脉，旨在回顾其最常见的先天性异常，并提醒儿科医生注意其罕见且更严重的并发症。
本病例报告涉及一名 18 个月大的男性婴儿，是非近亲父母的独生子。出生时，患儿表现为颅面畸形（面部不对称、上颌骨和下颌骨发育不全、巨口、3 级小耳畸形和副耳前赘），仅累及右侧面部。进一步的检查发现面部结构和胸段半椎体的不对称性发育不全。未发现染色体或基因组异常。患儿出现数次呼吸窘迫、喘鸣和恶心，即使在新生儿期进行了胃造口术和气管造口术。根据呼吸症状的调查，发现右位异常锁骨下动脉压迫食管和气管。该异常矫正术后，患儿未再出现呼吸症状，并继续接受多学科随访和康复治疗。
与颅面和颅外畸形相比，颅面短小畸形表现出广泛的表型变异性。后者与右位异常锁骨下动脉一样较为罕见，且与发病率和死亡率相关。本病例报告的主要贡献是发现了一种罕见的异常，该异常整合了一组相对常见疾病的畸形，这些畸形是儿科护理中非常常见的问题。
