Differential diagnosis of syndromic craniosynostosis: a case series

Arch Gynecol Obstet. 2022 Jul;306(1):49-57. doi: 10.1007/s00404-021-06263-9. Epub 2021 Oct 11.


Purpose: Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis.

Methods: We identified in the period of 2000-2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures.

Results: Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations.

Conclusion: Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.

Keywords: Apert syndrome; Prenatal ultrasound; Saethre Chotzen syndrome; Syndromic craniosynostosis.

MeSH terms

  • Acrocephalosyndactylia* / diagnostic imaging
  • Acrocephalosyndactylia* / genetics
  • Child
  • Craniosynostoses* / diagnostic imaging
  • Craniosynostoses* / genetics
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Mutation
  • Pregnancy