ArticleArchives of gynecology and obstetrics2022
Differential diagnosis of syndromic craniosynostosis: a case series.
Article in Archives of gynecology and obstetrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Analysis of prenatal ultrasound in diagnosing fetal craniosynostosis and its correlation with genetic anomalies: description of two cases and literature analysis.Quantitative imaging in medicine and surgery · 2026Article
- Pfeiffer Syndrome (Acrocephalosyndactyly) With Significant Syndactyly and Brachydactyly: A Case Report.Clinical medicine insights. Case reports · 2025Article
- Multisuture and Syndromic Craniosynostoses: Simplifying the Complex.Journal of pediatric neurosciences · 2022Review
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4 authors.
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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.
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