Ur Rahman Hameed, Anees Aleena, Ali Muhammad Asfandiyar, Ahmad Saad, Khan Abu Baker
Internal Medicine, Ayub Teaching Hospital, Abbottabad, PAK.
Pediatrics, Ayub Teaching Hospital, Abbottabad, PAK.
Cureus. 2023 Jul 12;15(7):e41767. doi: 10.7759/cureus.41767. eCollection 2023 Jul.
Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth, and absence or underdevelopment of the tongue. The syndrome complex of otocephaly can be categorized into four types based on associated anomalies. We present a case of this congenital anomaly in a newborn baby delivered by a 40-year-old woman who presented in active labor with premature rupture of membranes. Unfortunately, the newborn did not survive due to severe respiratory distress, which was consistent with the clinical features of this congenital anomaly. The rarity of otocephaly poses challenges for both parents and healthcare providers. Early antenatal scans are suggested for the early diagnosis of this condition. Further research and awareness are needed to better understand and manage this rare congenital disorder.
耳头畸形是一种罕见的先天性异常,其特征为下颌骨缺失或发育不全、耳朵向前移位、嘴巴小以及舌头缺失或发育不全。耳头畸形的综合征可根据相关异常分为四种类型。我们报告一例由一名40岁经产妇分娩的新生儿患有这种先天性异常的病例,该产妇临产后胎膜早破。不幸的是,新生儿因严重呼吸窘迫未能存活,这与这种先天性异常的临床特征相符。耳头畸形的罕见性给父母和医疗服务提供者都带来了挑战。建议进行早期产前扫描以早期诊断这种疾病。需要进一步的研究和提高认识,以更好地理解和管理这种罕见的先天性疾病。