Differential diagnosis of syndromic craniosynostosis: a case series

Tamara Casteleyn,Wolfgang Henrich,Denise Horn,Stefan Verlohren

doi:10.1007/s00404-021-06263-9

Abstract

PurposeSyndromic 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.MethodsWe 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.ResultsEight 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.ConclusionSecond 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.

Highlights

Craniosynostosis is the result of a premature fusion of one or multiple cranial sutures
Between 2000 and 2019, we identified thirteen pregnancies with high suspicion of syndromic craniosynostosis in our department
In one case, the postnatal genetic test detected a mutation in GLI3-gene, which causes Greig cephalopolysyndactyly syndrome, which is associated with craniosynostosis [16]

Summary

Introduction

Craniosynostosis is the result of a premature fusion of one or multiple cranial sutures. Depending on the affected sutures, the head can develop asymmetrically which is detectable in in utero with prenatal ultrasound. Surgery may be necessary in case of an increase in intracranial pressure. Isolated craniosynostosis is mostly sporadic, with an incidence of 1:2000–2500 [1]. Syndromic craniosynostosis usually involves multiple sutures combined with malformations of other organs [2]. Syndromes most frequently associated with craniosynostosis are Apert-, Crouzon-, Pfeiffer-, and Saethre Chotzen syndrome. The Apert syndrome is the most common with a prevalence

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