Related Experiment Video
Updated: Oct 17, 2025
Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Differential diagnosis of syndromic craniosynostosis: a case series
Tamara Casteleyn1, Denise Horn2, Wolfgang Henrich3
1Department of Gynecology and Obstetrics, Sana Klinikum Lichtenberg, Berlin, Germany.
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.
Related Concept Videos
01:22Sutures of the Skull
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
01:22Case Studies
01:19Cranial and Spinal Meninges
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...
01:14Cranial Bones: Superior and Posterior View
The frontal bone is the single bone that forms the forehead. At its anterior midline, between the eyebrows, there is a slight depression called the glabella. The frontal bone also forms the supraorbital margin of the orbit. Near the middle of this margin is the supraorbital foramen, the opening that provides passage for a sensory nerve to the forehead. The frontal bone is thickened just above each supraorbital margin,...
01:27Cranial Bones: Lateral View
The temporal bone forms the lower lateral side of the skull. The temporal bone is subdivided into several regions. The flattened upper portion is the squamous portion of the temporal bone. Below this area and projecting anteriorly is the zygomatic process of the temporal bone, which forms the posterior portion of the zygomatic arch. Posteriorly is the mastoid portion of the temporal bone. Projecting...