Lynch Hannah, Dweck Ezra, Nadeem Jehanzeb
Graduate Medical Education, New York Institute of Technology College of Osteopathic Medicine (NYITCOM), New York, USA.
Department of Family Medicine, Jamaica Hospital Medical Center, New York, USA.
Cureus. 2024 Jan 9;16(1):e51939. doi: 10.7759/cureus.51939. eCollection 2024 Jan.
PHACE (posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities) syndrome is an extremely uncommon condition that requires a team of physicians to properly diagnose, treat, and follow. Patients are at risk of posterior fossa malformations, hemangiomas, and arterial, cardiac, eye, and sternal cleft abnormalities. These syndrome hallmarks can cause severe functional and developmental issues or, in the worst case, death. The pediatrician's role is even more essential for pediatric patients who present with rare and intricate syndromes. Primary care physicians are the first line of defense for patients. They recognize alarm signs, coordinate patient care, and promote participation. This case report aims to describe the process by which a multisystemic and potentially lethal syndrome was excluded and illustrates the significance of a primary care physician for the diagnosis and management of such conditions.
PHACE（后颅窝畸形、血管瘤、动脉异常、主动脉缩窄/心脏缺陷和眼部异常）综合征是一种极为罕见的病症，需要一组医生进行准确诊断、治疗和随访。患者存在后颅窝畸形、血管瘤以及动脉、心脏、眼部和胸骨裂异常的风险。这些综合征特征可能导致严重的功能和发育问题，在最坏的情况下甚至会导致死亡。对于患有罕见且复杂综合征的儿科患者而言，儿科医生的作用更为关键。初级保健医生是患者的第一道防线。他们识别警示信号、协调患者护理并促进患者参与。本病例报告旨在描述排除一种多系统且可能致命综合征的过程，并阐明初级保健医生对于此类病症诊断和管理的重要性。
