Background: Several somatic mutations in TRAF7 have been reported in cancers, whereas a few germline heterozygous mutations have been recently linked to a neurodevelopmental disorder, characterized by craniofacial dysmorphisms, congenital heart defects, and digital anomalies.
Cases: We report two subjects harboring de novo heterozygous missense variants in TRAF7, namely the recurrent 1964G>A(p.Arg655Gln) and the novel missense c.1204C>G(p.Leu402Val) variants. In addition to the typical hallmarks of the TRAF7-related disorder, both subjects presented with a recognizable "pear-shaped" skull due to multiple craniosynostosis, sinus pericranii, skull base/cranio-cervical junction anomalies, dysgyria, and inferior cerebellar vermis hypoplasia.
Conclusions: Hence, we expand the genotypic and phenotypic spectrum of this neurodevelopmental disorder, discussing possible implications for clinical management of subjects with germline TRAF7 mutations.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/bdr2.1711 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Parietal Meningocele Under the Scalp of a Fetus Diagnosed Based on Volume Contrast Imaging of Prenatal Three-Dimensional Ultrasound Data.
Case Rep Neurol Med
January 2025
Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan.
Determining the differential diagnosis of small scalp cysts identified on a fetus is difficult. In particular, many physicians have difficulty differentiating small meningoceles from small scalp cysts during the prenatal period. Volume contrast imaging increases contrast between tissues, thereby allowing an enhanced view of target structures.
View Article and Find Full Text PDFCase Report: A young man with frontal traumatic sinus pericranii.
Front Surg
December 2024
Department of Neurosurgery, Peking University People's Hospital, Beijing, China.
Sinus pericranii is a rare venous anomaly characterized by abnormal communication between intracranial and subperiosteal veins, and reports of trauma-induced sinus pericranii are even rarer. Herein, we report a case of delayed-onset sinus pericranii resulting from a traumatic injury to the left side of the midline of the forehead sustained in early childhood. The anomaly was successfully resected via a coronal incision within the hairline, followed by meticulous bone wax sealing.
View Article and Find Full Text PDF[Giant pericranial sinus with extensive occipital calvarium defect].
Zh Vopr Neirokhir Im N N Burdenko
December 2024
Irkutsk State Medical University, Irkutsk, Russia.
Background: Giant non-traumatic and non-iatrogenic cranial vault defects are poorly studied due to their rarity. Therefore, diagnosis and analysis of their causes are difficult. In available literature, we found only 4 cases of giant pericranial sinus accompanied by extensive cranial vault defects.
View Article and Find Full Text PDFA 17-year-old girl with a congenital, painless right forehead swelling obstructing her visual field was diagnosed with sinus pericranii. Radiological imaging confirmed extracalvarial arteriovenous malformation with serpentine vessels and bony erosion. Endovascular surgery was chosen for management, highlighting the necessity of considering SP in differential diagnosis for scalp swellings.
View Article and Find Full Text PDFCerebral Doppler imaging in neonates: A guide for clinical application and diagnosis.
Dev Med Child Neurol
December 2024
Department of Neonatology, UZBrussel, Brussels, Belgium.
Article Synopsis
- Cranial ultrasound is a reliable method to diagnose various brain disorders in newborns, and adding Doppler imaging enhances diagnostic capabilities by showing blood vessel status and blood flow.
- Doppler imaging can identify serious vascular issues in newborns, such as perinatal stroke and various malformations, which may require additional imaging techniques for thorough evaluation.
- The review aims to improve clinicians' skills in Doppler sonography, enabling better diagnosis and management for neonates with neurological symptoms or suspected vascular problems in the neonatal intensive care unit.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!