Multi-Suture Craniosynostosis in Russell-Silver Syndrome: A Rare Clinical Entity

Abstract

Introduction: Multi-suture craniosynostosis is a complex craniofacial anomaly frequently associated with syndromic diagnoses and significant neurologic morbidity. While craniosynostosis has been described in association with fibroblast growth factor receptor (FGFR) and TWIST gene mutations, its association with Russell-Silver syndrome (RSS) has not been previously reported. Methods: We present the case of a medically complex infant with multi-suture craniosynostosis, hydrocephalus, and confirmed genetic diagnoses of RSS and chromosome 2q37 deletion. Her perioperative course was complicated by respiratory insufficiency, 2 cardiac arrests, Pseudomonas meningitis, myoclonic seizures, and repeated cerebrospinal fluid (CSF) diversion procedures. Cranial expansion was ultimately achieved through open strip craniectomies and spring-mediated cranioplasty. Results: After initial stabilization and placement of a ventriculoperitoneal shunt, cranial expansion via spring-mediated strip craniectomies was performed at 9 months of age. Despite high anesthetic risk, the patient tolerated the procedure well. Postoperatively, she experienced transient seizure exacerbation and minor scalp complications. Springs were electively removed at 3 months. Head shape and intracranial volume improved, as demonstrated by 3D photogrammetry and morphometric modeling. Conclusion: This is the first reported case of multi-suture craniosynostosis in a child with RSS and 2q37 deletion. Careful multidisciplinary coordination enabled safe surgical intervention despite significant comorbidities. This case underscores the need to individualize craniosynostosis treatment strategies for syndromic patients with limited physiologic reserve.