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Background <p>Craniofrontonasal dysplasia (CFND) is a rare X-linked disorder caused by mutations in the EFNB1 gene, typically characterized by hypertelorism, craniosynostosis, and facial asymmetry. Although other congenital anomalies have been reported, neural tube defects—particularly myelomeningocele (MMC)—have not previously been associated with CFND in humans.</p> Case Description <p>We present the case of a full-term female neonate with prenatally diagnosed MMC and Chiari II&#xa0;malformation. She also exhibited a unique constellation of craniofacial features, including a wide frontal bone defect&#xa0;with brain prolapse, right anterior plagiocephaly, hypertelorism, and brachycephaly, giving the head a “smurf cap”&#xa0;appearance. Additional anomalies included a left diaphragmatic hernia and thumb hexadactyly. Genetic testing&#xa0;confirmed CFND via an EFNB1mutation.&#xa0;Early postnatal interventions included MMC repair, ventriculoperitoneal shunting, and diaphragmatic hernia repair. At&#xa0;11 months, total cranial vault remodeling was performed to address progressive cranial deformity and&#xa0;encephalocele. A staged surgical approach used both autologous and homologous bone grafts to repair the cranial&#xa0;defect. At age 5, fronto-orbital advancement was performed. Long-term follow-up at 12 years showed complete graft&#xa0;integration, normal cognitive development, and satisfactory craniofacial growth, with mild maxillary hypoplasia and&#xa0;residual hypertelorism.</p> Conclusions <p>This case represents the first reported co-occurrence of CFND and MMC. The case also underscores the feasibility&#xa0;and long-term success of combined autologous and homologous bone grafting in extensive pediatric cranial vault&#xa0;reconstruction.</p>

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A “Smurf-Cap” head requiring total cranial vault reshaping. A novel syndromic presentation of craniofrontonasal dysplasia associated with spina bifida

  • 期刊论文

  • 发表日期：

    2025年5月13日

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  • Maria Fragale,
  • Martina Giordano,
  • Raul Della Valle,
  • Gabriele Canzi,
  • Giuseppe Talamonti

摘要

Background

Craniofrontonasal dysplasia (CFND) is a rare X-linked disorder caused by mutations in the EFNB1 gene, typically characterized by hypertelorism, craniosynostosis, and facial asymmetry. Although other congenital anomalies have been reported, neural tube defects—particularly myelomeningocele (MMC)—have not previously been associated with CFND in humans.

Case Description

We present the case of a full-term female neonate with prenatally diagnosed MMC and Chiari II malformation. She also exhibited a unique constellation of craniofacial features, including a wide frontal bone defect with brain prolapse, right anterior plagiocephaly, hypertelorism, and brachycephaly, giving the head a “smurf cap” appearance. Additional anomalies included a left diaphragmatic hernia and thumb hexadactyly. Genetic testing confirmed CFND via an EFNB1mutation. Early postnatal interventions included MMC repair, ventriculoperitoneal shunting, and diaphragmatic hernia repair. At 11 months, total cranial vault remodeling was performed to address progressive cranial deformity and encephalocele. A staged surgical approach used both autologous and homologous bone grafts to repair the cranial defect. At age 5, fronto-orbital advancement was performed. Long-term follow-up at 12 years showed complete graft integration, normal cognitive development, and satisfactory craniofacial growth, with mild maxillary hypoplasia and residual hypertelorism.

Conclusions

This case represents the first reported co-occurrence of CFND and MMC. The case also underscores the feasibility and long-term success of combined autologous and homologous bone grafting in extensive pediatric cranial vault reconstruction.