Craniosynostosis in Siblings, an Extremely Rare Occurrence: A Case Report

Abstract

Craniosynostosis (CS) is the premature fusion of skull sutures, with all sutures except the metopic suture typically fusing in adulthood. Premature fusion constrains brain growth, leading to abnormal skull shape and potential neurocognitive or neurological issues, along with syndromic features in some cases. While CS is rare, its occurrence in siblings is exceptionally uncommon and holds significant academic importance. We report a case of CS in siblings: a 13-month-old boy and his five-and-a-half-year-old sister. Neither parent exhibits craniofacial dysmorphism or signs of increased intracranial pressure (ICP). The younger sibling presents with dolichocephaly and normal neurological, cognitive, and motor development, while the elder sibling exhibits proptosis, midface hypoplasia, and normal developmental milestones. Neither sibling displays limb or systemic anomalies. Imaging studies, including multislice plain CT brain with 3D skull reconstruction and MRI, revealed multiple suture closures. The younger sibling has complete sagittal suture closure with partial closure of other sutures, while the elder sibling shows multisutural CS. Ophthalmologic evaluations and developmental assessments excluded increased ICP and systemic issues. Most CS cases follow an autosomal dominant inheritance pattern, making this case particularly significant. CT with 3D skull reconstruction remains the diagnostic gold standard. Management aims to preserve cosmetic appearance and prevent complications from increased ICP. Treatment options range from conservative follow-up to surgical interventions, including endoscopic suturectomy, open craniotomy, and distraction osteogenesis, depending on the presence of neurocognitive issues or elevated ICP. Both siblings currently show normal neurological, cognitive, and motor development without increased ICP, emphasizing the need for ongoing monitoring to identify new developments or recurrence after treatment. Differential diagnoses, such as deformational plagiocephaly, must also be considered in such cases.