Black Bone MRI vs. CT in temporal bone assessment in craniosynostosis: a radiation-free alternative.

Background And Purpose: Craniosynostoses are rare congenital craniofacial malformations, variably affected by hearing loss, often requiring repeated CT examinations to assess skull or temporal bone (TB) abnormalities. In order to avoid radiation exposure in these young patients, efforts are made to assess the skull abnormalities on MR bone imaging sequences, such as Black Bone (BB). Our aim is to compare BB, a radiation-free imaging technique, with CT for the assessment of the TB.

Eye and Orbital Anatomy in Metopic Synostosis.

Background: Metopic synostosis patients have a high prevalence of orthoptic anomalies, including hyperopia, astigmatism, and amblyopia. We hypothesized altered orbital anatomy contributes to suboptimal visual outcomes by adversely affecting eye anatomy and growth from early life onward. Therefore, we aimed to investigate eye and orbital anatomy in metopic synostosis.

A Suture-specific Photo Score for Metopic Synostosis.

Head shape assessments in children with metopic synostosis are a relevant outcome measure in addition to functional measures, such as neurocognitive outcomes, behavioral outcomes, and visual functioning outcomes. However, consensus on head shape assessments in children with metopic synostosis is lacking. The aim of this study is to develop a reproducible and reliable suture-specific photo score that can be used for cross-center comparison of phenotypical severity of metopic synostosis and evaluation of esthetic outcome of treatment later in childhood.

Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients.

Craniosynostosis may present in isolation, 'non-syndromic', or with additional congenital anomalies/neurodevelopmental disorders, 'syndromic'. Clinical focus shifted from confirming classical syndromic cases to offering genetic testing to all craniosynostosis patients. This retrospective study assesses diagnostic yield of molecular testing by investigating prevalences of chromosomal and monogenic (likely) pathogenic variants in an 11-year cohort of 1020 craniosynostosis patients.

A Photo Score For Aesthetic Outcome In Sagittal Synostosis: An ERN CRANIO Collaboration.

European Reference Network (ERN) CRANIO is focused on optimizing care for patients with rare or complex craniofacial anomalies, including craniosynostosis and/or rare ear, nose, and throat disorders. The main goal of ERN CRANIO is to collect uniform data on treatment outcomes for multicenter comparison. We aimed to develop a reproducible and reliable suture-specific photo score that can be used for cross-center comparison of phenotypical severity of sagittal synostosis and aesthetic outcome of treatment.

A Diffusion Tensor Imaging Analysis of Frontal Lobe White Matter Microstructure in Trigonocephaly Patients.

Background: Children with trigonocephaly are at risk for neurodevelopmental disorders. The aim of this study is to investigate white matter properties of the frontal lobes in young, unoperated patients with metopic synostosis as compared to healthy controls using diffusion tension imaging (DTI).

Methods: Preoperative DTI data sets of 46 patients with trigonocephaly with a median age of 0.

Cerebral Blood Flow of the Frontal Lobe in Untreated Children with Trigonocephaly versus Healthy Controls: An Arterial Spin Labeling Study.

Background: Craniofacial surgery is the standard treatment for children with moderate to severe trigonocephaly. The added value of surgery to release restriction of the frontal lobes is unproven, however. In this study, the authors aim to address the hypothesis that the frontal lobe perfusion is not restricted in trigonocephaly patients by investigating cerebral blood flow.

Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?

Congenital diaphragmatic hernia (CDH) is a life-threatening birth defect that presents as either an isolated diaphragm defect or as part of a complex disorder with a wide array of anomalies (complex CDH). Some patients with complex CDH display distinct craniofacial anomalies such as craniofrontonasal dysplasia or craniosynostosis, defined by the premature closure of cranial sutures. Using clinical whole exome sequencing (WES), we found a missense variant in a patient with a left-sided congenital diaphragmatic hernia as well as sagittal suture craniosynostosis.

Disappointing results of spring-assisted cranial vault expansion in patients with Crouzon syndrome presenting with sagittal synostosis.

The aim of this study was to report on a single center's experience with spring-assisted cranial vault expansion (SAE) in patients with Crouzon syndrome and sagittal suture synostosis. Strip craniotomy with SAE has resulted in successful outcomes with low complication and revision rates in patients with isolated scaphocephaly. However, recent experience suggests that outcomes in patients with Crouzon syndrome and sagittal synostosis (SS) who undergo SAE are less favorable compared with the outcomes of those who undergo frontobiparietal (FBP) expansion.

Adult Saethre-Chotzen Syndrome: A Unique Abnormal Breathing Pattern.

A 35-year-old male with Saethre-Chotzen syndrome presented with severe complaints. Neuroimaging showed a Chiari-I malformation, mild ventriculomegaly, a syrinx of the wide central canal, and various cerebral vascular anomalies including a large occipital emissary vein on the right. Ultrasound of this vein confirmed blocking of the outflow-track when turning his head to the right, which also provoked the headaches and bruit.