Publications by authors named "Khonsari R"

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.

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Diagnostic 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.

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Background: 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.

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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).

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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.

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Craniofacial 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.

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Article Synopsis
  • * In mice with mutations in ciliary proteins, abnormal cranial neural crest-derived cells disrupt signaling pathways, leading to improper cell differentiation and subsequent tongue issues like ankyloglossia.
  • * The research also indicates that these tongue deformities can be artificially triggered in normal mice, suggesting potential avenues for treatment approaches in ciliopathies.
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  • The study investigates the variability in skull and facial deformation in patients with unicoronal synostosis, a condition affecting the shape of the head due to early fusion of the skull bones.
  • Researchers analyzed data from 95 patients and 93 controls to identify correlations between different cranial deformities, age, and timing of surgeries, finding significant relationships between skull base and orbital asymmetries.
  • The findings suggest that the differences in cranial shape are mainly linked to skull base structure and that certain cranial sutures' fusion could potentially limit the extent of deformity.
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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.

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Our 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.

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  • * The researchers utilized a dataset of 3D head shapes, enhanced using a new data augmentation method, to train the SD-VAE model, which allows for detailed analysis of both overall head shapes and specific anatomical regions.
  • * The findings enable syndrome classification and help to predict outcomes of craniofacial surgeries, thus improving diagnostic techniques and surgical planning, with the code shared on GitHub for further research.
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  • The study focuses on using AI to assist in diagnosing syndromic craniosynostoses like Apert, Crouzon, Muenke, Pfeiffer, and Saethre Chotzen syndromes from facial photographs.
  • Researchers analyzed 2,228 photos from 541 patients over 44 years, aiming to identify features that distinguish these syndromes from non-syndromic cases.
  • The AI model successfully diagnosed 70.2% of cases with a significant correlation between certain genotypes and milder disease phenotypes in Crouzon-Pfeiffer syndrome, suggesting new diagnostic avenues.
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Purpose: 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.

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  • FFMBA is a surgical method used for treating syndromic craniosynostoses, which involves facial advancement and can stress the optic nerve, possibly causing temporary vision loss during recovery.
  • The study included 26 patients with Crouzon syndrome, analyzing pre- and postoperative CT scans to assess changes in the optic nerve's shape and size after the procedure.
  • Findings indicated that the optic nerve elongates but its cross-section decreases during FFMBA, and two patients who experienced visual impairment had significant reductions in nerve area correlated with higher distraction amplitude, highlighting the need for careful monitoring of vision during recovery.
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The 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.

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  • Genetic diseases linked to craniofacial malformations often result in issues with the craniocervical joint (CCJ), affecting mobility and potentially causing severe complications like headaches or spinal cord damage.
  • The study aimed to uncover the relationship between the anatomy and function of the CCJ, using data from nine cadaveric adults to analyze how bone shape influences movement.
  • Findings indicated that bone geometry significantly affects both primary and secondary movements of the CCJ, which may inform surgical approaches for correcting anomalies in children.
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  • Fronto-facial monobloc advancement with internal distraction (FFMBA) is crucial for addressing faciocraniosynostoses, involving the placement of distractors for effective bone advancement.
  • The study evaluated the alignment of distractors in 19 FFMBA surgeries and found that optimal positioning can be guided by the horizontal cut of the tongue and groove osteotomy.
  • Results suggest that while maintaining parallelism is important, the precise angling of distractors may not significantly impact the outcome, emphasizing the value of visual monitoring during the procedure.
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  • The study investigates how the shape and mechanics of infant skulls change significantly from before to after weaning due to increased use of jaw muscles during chewing.
  • Researchers analyzed 51 CT scans of normal infants, showing that muscle and bite forces increase substantially in the first 48 months of life.
  • The findings reveal a shift in stress patterns from the top of the skull to the facial area as infants grow, leading to questions about how these mechanical forces affect overall skull development.
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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.

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Background: 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.

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X-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.

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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.

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Article Synopsis
  • The study aimed to develop an automatic tool that can identify specific ear characteristics in fetuses affected by CHARGE and MFDGA syndromes compared to controls.
  • Researchers trained the model using ear photographs of children with these syndromes and applied machine learning techniques to classify images of fetuses.
  • Results showed that the model could accurately classify the fetuses with an overall accuracy of 72.6%, indicating promising potential, but further validation is needed before it can be used clinically.
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