Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients

Childs Nerv Syst. 2021 Sep;37(9):2873-2878. doi: 10.1007/s00381-021-05134-7. Epub 2021 Apr 16.


Background: Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates.

Methods: A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy.

Results: A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period.

Conclusion: The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.

Keywords: Craniofrontonasal dysplasia; Craniofrontonasal syndrome; Hypertelorbitism; Hypertelorism.

MeSH terms

  • Craniofacial Abnormalities* / complications
  • Craniofacial Abnormalities* / surgery
  • Female
  • Frontal Bone
  • Humans
  • Hypertelorism* / surgery
  • Retrospective Studies

Supplementary concepts

  • Craniofrontonasal dysplasia