Craniosynostosis in a patient with Fanconi-Bickel syndrome: a case report

J Pediatr Endocrinol Metab. 2022 Jul 7;35(9):1201-1205. doi: 10.1515/jpem-2022-0150. Print 2022 Sep 27.


Objectives: Craniosynostosis may be a rare but severe complication of Fanconi-Bickel syndrome (FBS). Both conditions can be associated with feeding intolerance in young children. Prompt recognition and correction of increased intracranial pressure may lead to improved dietary tolerance in FBS patients and decrease morbidity.

Case presentation: We present the case of a child with genetically confirmed FBS, severe feeding intolerance and evidence of metabolic bone disease. At two years of age, a diagnosis of multi-sutural craniosynostosis with increased intracranial pressure was made. The patient underwent cranial vault expansion using distraction osteogenesis, after which his feeding intolerance completely resolved.

Conclusions: This case highlights the importance of monitoring for secondary craniosynostosis in patients with FBS and frequent emesis. Objective markers of bone health may help identify children at highest risk, though the actual mechanism of development is likely multifactorial. Increased awareness of this potential association should prompt more routine screening and improve outcomes.

Keywords: Fanconi-Bickel syndrome; craniosynostosis; metabolic bone disease.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Craniosynostoses* / complications
  • Craniosynostoses* / surgery
  • Fanconi Syndrome*
  • Humans
  • Infant, Newborn
  • Intracranial Hypertension*
  • Osteogenesis, Distraction* / adverse effects