Department of Pediatrics, Division of Neonatal-Perinatal Medicine, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.
Neoreviews. 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250.
Craniosynostosis is the premature fusion of 1 or more sutures that normally separate the bony plates of an infant's skull and occurs in about 1 in 2,000 to 2,500 live births. Primary or congenital craniosynostoses represent the majority of cases and consist of single-suture and multisuture synostoses. Multisuture synostoses are typically associated with distinct craniofacial syndromes, including Muenke syndrome, Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome, and are thus categorized under syndromic craniosynostoses. Secondary causes of craniosynostoses include metabolic or hematologic disorders that affect bone metabolism and typically present much later than primary synostoses. The severity of the deformity and the presence of increased intracranial pressure dictate the need for early surgical intervention, prompting the importance of early recognition and timely referral. Infants with craniosynostosis are also at increased risk for neurodevelopmental impairment and thus require close follow-up and monitoring. The early recognition and referral of craniosynostosis is imperative for the optimization of management and minimization of potential neurologic impairments that may develop.
颅缝早闭是指婴儿颅骨的骨板之间的 1 条或多条缝线过早融合，其发病率约为每 2000 至 2500 例活产儿中出现 1 例。原发性或先天性颅缝早闭占大多数病例，包括单缝和多缝早闭。多缝早闭通常与明显的颅面综合征有关，包括 Muenke 综合征、Apert 综合征、Crouzon 综合征和 Pfeiffer 综合征，因此被归类为综合征性颅缝早闭。颅缝早闭的继发性原因包括影响骨代谢的代谢或血液疾病，这些疾病通常比原发性早闭出现得晚得多。畸形的严重程度和颅内压增高的存在决定了是否需要早期手术干预，这凸显了早期识别和及时转诊的重要性。颅缝早闭的婴儿也有更高的神经发育障碍风险，因此需要密切随访和监测。早期识别和转诊颅缝早闭对于优化管理和最大限度减少可能发展的潜在神经损伤至关重要。
