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Aberrant Course of the Intratemporal Facial Nerve in Children with Congenital Hearing Loss
Congenital facial nerve (FN) malformations are uncommon. Our aim is to determine the clinical and radiological features of FN malformations along...
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Facial skeleton dysmorphology in syndromic craniosynostosis: differences between FGFR2 and no-FGFR2-related syndromes and relationship with skull base and facial sutural patterns
PurposeTo assess the role of FGFR2 mutations and sutural synostotic patterns on facial skeleton dysmorphology in children with syndromic...
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Cochlear Implant in cochlear Hypoplasia type 4 with Chiari Malformation- Case Report
Cochlear hypoplasia type IV is a rare cochlear malformation with hypoplastic middle and apical turns while basal turn develops normally, it often...
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Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature
BackgroundFacial asymmetry when crying at birth (then called asymmetric crying facies or ACF) or when smiling or speaking loudly in adulthood is the...
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Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report
BackgroundSpinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 ( SMN1 ) gene. Hypoplasia of...
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Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia
Pontocerebellar hypoplasia is a group of disorders with a wide range of presentations. We describe here the genetic and phenotypic features of PCH...
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Partial facial duplication (diprosopus): a case report and review of the literature
BackgroundDiprosopus, or craniofacial duplication, is a rare entity that occurs in approximately 1 in 180,000 to 15 million live births. The degree...
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Clinical, radiological, and genetic variation in pontocerebellar hypoplasia disorder and our clinical experience
Pontocerebellar hypoplasia (PCH) constitutes a heterogeneous neurodegenerative/neurodevelopmental disorder of the pons and cerebellum with onset in...
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Role of Temporomandibular Total Joint Replacement in Correction of Facial Deformities
IntroductionIndividuals suffering from facial deformities experience esthetic, functional and social setback in their lives every day. These patients...
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Accuracy of prenatal detection of facial clefts and relation between facial clefts, additional malformations and chromosomal abnormalities: a large referral-center cohort
PurposeFacial clefts belong to the most common congenital malformations and their prenatal diagnosis is a constant challenge. The aim of this study...
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Assessing the value of second-trimester nasal bone hypoplasia in predicting chromosomal abnormalities: a retrospective chromosomal microarray analysis of 351 fetuses
PurposeTo evaluate the value of fetal nasal bone hypoplasia and other prenatal risk factors in predicting chromosomal abnormalities.
Methods ...
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Optimization and evaluation of facial recognition models for Williams-Beuren syndrome
Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic...
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Hemifacial microsomia: a sco** review on progressive facial asymmetry due to mandibular deformity
PurposeThis sco** review explores various parameters of the mandible in progressive facial asymmetry (FA) in hemifacial microsomia (HFM) patients,...
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Exploring Progression and Differences in Facial Asymmetry for Hemifacial Microsomia and Isolated Microtia: Insights from Extensive 3D Analysis
BackgroundAiming to measure and compare asymmetry of facial hard and soft tissues in patients with HFM and isolated microtia, examining how it...
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Speech following Le Fort I Maxillary Advancement in Cleft Maxillary hypoplasia – an objective and subjective outcome analysis
PurposeTo objectively evaluate the effect of maxillary advancement on speech and VPI using video-fluoroscopy (VFS), direct nasoendoscopy, and speech...
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Congenital Mandibular Hypoplasia: Patient-Specific Total Joint Replacement as a Line Extension in the Treatment of Complex Craniofacial Anomalies
IntroductionCongenital mandibular hypoplasia (CMH) remains challenging because of the underlying combined hard and soft tissue deficiency. Treatment...
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Clinical value of fetal facial profile markers during the first trimester
ObjectivesTo study the correlations between facial profile markers and crown-lump length (CRL) in a Chinese population, and to evaluate the clinical...
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Early Trifurcation of the Mandibular Branch of the Facial Nerve in a Cadaveric Specimen
Rare facial nerve branching patterns, pose dangers due to their unexpected course. Cases with multiple branches may reduce the intraoperative risk,...
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A rare case report of non-syndromic unilateral cerebellar dysplasia and hypoplasia: a diagnostic enigma
BackgroundCerebellar malformations are broadly categorized into hypoplasias and dysplasias, which are further divided based on focal or diffuse...
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Parry–Romberg Syndrome: Successful Result in a Single Procedure Combining Silicone Implant and Structural Fat Grafting for Severe Facial Deformity
BackgroundParry–Romberg syndrome (PRS) is an enigmatic and acquired degenerative condition. It is characterized by a gradual and progressive facial...
