Ng Jinggang J, Massenburg Benjamin B, Wu Meagan, Romeo Dominic J, Swanson Jordan W, Taylor Jesse A, Bartlett Scott P
From the Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, Pa.
Plast Reconstr Surg Glob Open. 2024 Jan 23;12(1):e5558. doi: 10.1097/GOX.0000000000005558. eCollection 2024 Jan.
Apert syndrome classically presents with craniosynostosis at birth, most commonly of the bilateral coronal sutures, which may lead to cephalocranial disproportion and elevated intracranial pressure, the latter of which is associated with optic atrophy, visual loss, and developmental delays. A small number of patients with syndromic craniosynostosis demonstrate open sutures at birth; however, all previously reported patients of this subtype have been reported to develop premature suture fusion in the early postnatal period and/or require cranial vault expansion for increased intracranial pressure. Here, we report on a patient with Apert syndrome who did not have closed sutures at birth, and only began to demonstrate unilateral coronal suture fusion between ages 4 and 6 years, yet neither developed phenotypic signs of craniosynostosis nor evidence of intracranial hypertension. Moreover, despite demonstrating patency of the spheno-occipital synchondrosis, the patient developed progressive midface hypoplasia, requiring a subcranial Le Fort 3 advancement with external distraction at age 9. Now at skeletal maturity, this patient has a normal cranial shape and will likely never require cranial vault surgery for functional or aesthetic concerns. We are not aware of any prior reports of a patient with Apert syndrome who did not require intracranial surgery over long-term follow-up.
Apert综合征典型表现为出生时即存在颅缝早闭,最常见于双侧冠状缝,这可能导致头颅比例失调和颅内压升高,后者与视神经萎缩、视力丧失及发育迟缓相关。少数综合征性颅缝早闭患者出生时颅缝开放;然而,此前报道的该亚型所有患者均在出生后早期出现过早的颅缝融合和/或因颅内压升高需要进行颅盖扩大术。在此,我们报告1例Apert综合征患者,其出生时颅缝未闭合,仅在4至6岁之间开始出现单侧冠状缝融合,但既未出现颅缝早闭的表型体征,也无颅内高压的证据。此外,尽管蝶枕软骨结合通畅,但该患者出现了进行性面中部发育不全,9岁时需要进行颅下Le Fort 3前移术并辅以外部牵引。目前骨骼已成熟,该患者颅骨形状正常,很可能永远无需因功能或美观问题进行颅盖手术。我们不知道此前有任何关于Apert综合征患者经长期随访无需进行颅内手术的报道。