Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
View Article and Find Full Text PDFDiagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
View Article and Find Full Text PDFBackground: There is a need for a new, less invasive surgical option for unicoronal synostosis (UCS). The aim of this study was to compare the resulting morphology and symmetry in patients with UCS following fronto-orbital distraction (FOD) or calvarial switch (CS).
Methods: 79 patients with isolated UCS operated between 2005 and 2021 were analyzed.
Int J Oral Maxillofac Surg
December 2024
There is considerable variability in the management of common orofacial clefts across Europe, reflecting differing opinions on optimal treatments. An updated overview of treatment protocols for orofacial clefts across 26 expert centres in the European Reference Network CRANIO is presented here. A structured questionnaire was distributed to map the surgical protocol and additional standard procedures for cleft palate (CP), unilateral cleft lip and palate (UCLP), and bilateral cleft lip and palate (BCLP).
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
November 2024
Artificial skull deformations were performed in all cultures since Prehistoric times using external devices, to permanently modify the shape of the head of newborns. Two types of deformations are reported: (1) antero-posterior deformations ("flat heads") and (2) circumferential deformations ("long heads"). Deformation devices exert mechanical forces on the forehead and the occiput: forehead shape is thus a major source of information for diagnosis, classification and on the culture significance of artificial skull deformations.
View Article and Find Full Text PDFCraniofacial development involves processes leading to the positioning and early growth of the frontal ossification centers. Growth then occurs, mostly secondary to the activity of the sutures, with major interactions with the functional environment, mostly consisting in the growing brain, based on mechanosensation and mechanotransduction mechanisms. Here, we review these processes and assess their relevance in the understanding of craniofacial malformations.
View Article and Find Full Text PDFJ Plast Reconstr Aesthet Surg
December 2024
Background: Fronto-facial monobloc advancement with internal distraction (FFMBA) is a central procedure in the management of FGFR-related craniosynostoses. Children undergoing FFMBA may present with resorption of the frontal bony flap in the months or years following surgery. Here, we aimed at identifying the clinical factors associated with resorption and its extent in patients with Crouzon and Pfeiffer syndromes.
View Article and Find Full Text PDFOur fundamental understanding of the physico-mechanical forces that drive the size and shape changes of the cranium during ontogeny are limited. Biomechanical models based on finite element method present a huge opportunity to address this critical gap in our knowledge. Here, we describe a validated computational framework to predict normal craniofacial growth.
View Article and Find Full Text PDFPurpose: Craniofacial osteotomies involving pterygomaxillary disjunction are common procedures in maxillofacial surgery. Surgeons still rely on their proprioception to determine when to stop impacting the osteotome, which is important to avoid complications such as dental damage and bleeding. Our group has developed a technique consisting in using an instrumented hammer that can provide information on the mechanical properties of the tissue located around the osteotome tip.
View Article and Find Full Text PDFThe forehead is the cranial part of the forehead, and represents an important component of facial esthetics. The deformations linked to craniosynostoses are characterized by modifications in height, width, and angulation. Their surgical correction during childhood is based on well-established techniques of remodeling using resorbable osteosynthesis.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
October 2024
The craniocervical junction (CCJ) forms the bridge between the skull and the spine, a highly mobile group of joints that allows the mobility of the head in every direction. The CCJ plays a major role in protecting the inferior brainstem (bulb) and spinal cord, therefore also requiring some stability. Children are subjected to multiple constitutive or acquired diseases involving the CCJ: primary bone diseases such as in FGFR-related craniosynostoses or acquired conditions such as congenital torticollis, cervical spine luxation, and neurological disorders.
View Article and Find Full Text PDFBackground: Trigonocephaly occurs due to the premature fusion of the metopic suture, leading to a triangular forehead and hypotelorism. This condition often requires surgical correction for morphological and functional indications. Metopic ridges also originate from premature metopic closure but are only associated with mid-frontal bulging; their surgical correction is rarely required.
View Article and Find Full Text PDFX-ray Computed Tomography (CT) images are widely used in various fields of natural, physical, and biological sciences. 3D reconstruction of the images involves segmentation of the structures of interest. Manual segmentation has been widely used in the field of biological sciences for complex structures composed of several sub-parts and can be a time-consuming process.
View Article and Find Full Text PDFPlast Reconstr Surg Glob Open
May 2024
Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support campaigns. Patient identification is a key issue in the management of life-threatening conditions in extreme situations, such as in oncology or for diabetes, and can be challenging when diagnosis requires biological or radiological investigations.
View Article and Find Full Text PDF