A 7-year-old Chinese boy presented with severe postnatal growth failure (height <3rd percentile at age 7 years), global developmental delay, moderate intellectual disability, and characteristic dysmorphic features including hypertelorism, short palpebral fissures, low-set ears, and a broad nasal bridge. A single electrocardiogram demonstrated a borderline corrected QT interval (QTc = 450 ms). No arrhythmias, QT-prolonging medications, electrolyte abnormalities, or relevant family cardiac history were identified. This finding warrants longitudinal cardiology follow-up and should not be interpreted as definitive Long QT syndrome. Whole-exome sequencing identified two novel missense variants in the PCNT gene (NM_006031.5): c.5675A>G (p.Glu1892Gly) in exon 28 and c.9734G>T (p.Arg3245Ile) in exon 45. Both variants were absent from gnomAD, ExAC, the 1000 Genomes Project database, and Chinese population databases, fulfilling ACMG criterion PM2. Although classified as variants of uncertain significance (VUS) because of limited functional evidence and conflicting in silico predictions, the variants occur in a gene associated with primordial dwarfism and are accompanied by partial phenotypic overlap with Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II). However, parental segregation analysis was unavailable; therefore, the variant phase could not be confirmed, and a recessive disease mechanism could not be established. These findings support the presence of candidate PCNT variants in an atypical primordial dwarfism phenotype and illustrate the utility of whole-exome sequencing for generating testable molecular hypotheses in genetically heterogeneous growth disorders. A definitive molecular diagnosis cannot be established at present, and the isolated borderline QTc finding requires further clinical evaluation.

Amniotic Band Syndrome (ABS) is a congenital disorder which is caused by the entrapment of fetal parts in fibrous amniotic bands while in utero. It is found in 1 in 1200 to 15000 live births. There is no gender or ethnic predisposition. Abnormalities can involve the cranium, face, trunk, abdomen, and extremities. Extremities are the most frequently affected parts, which appear as absence of digits, abnormally developed extremities, or amputations. The prognosis depends on the severity of manifestations, ranging from mild to lethal abnormalities. The purpose of this report is to discuss a rare case of a patient with ABS, a profound intellectual disability, and associated craniofacial abnormalities such as the congenital absence of the nose and upper lip, which introduced significant challenges to dental anesthesia for a comprehensive dental examination and management. A preoperative anesthesia assessment must consider the patient's medical diagnosis, daily medication regimen, physical and airway status, PONV risk, prior anesthetic interventions, and other factors related to the patient's condition. Therefore, we must consider the extent of physical abnormalities present and any reconstruction reported when selecting the type of anesthesia and supporting airway devices.

Secondary nasolabial aesthetic revision after cleft lip surgery requires coordinated assessment of scar-related contracture, lip subunit distortion, and cleft nasal deformity. Traditionally, these 2 aspects have been managed separately. This narrative review summarizes a focused, revision-oriented framework in which scar management is considered as an adjunct to staged nasolabial subunit reconstruction rather than as an isolated therapeutic goal. Early scar-directed measures, including tension reduction, silicone-based therapy, pulsed-dye laser, and selected pharmacologic interventions, may improve tissue quality and reduce contracture before definitive revision; however, their use should be individualized because evidence and timing remain heterogeneous. For established secondary deformities, definitive revision focuses on the philtrum, Cupid's bow, vermilion, alar base, columella, and nasal tip using local flaps, cartilage grafting, soft-tissue rearrangement, and orbicularis oris reorientation. This approach restores 3-dimensional (3D) symmetry and natural landmarks. Digital technologies such as 3D photogrammetry, finite element analysis (FEA), and artificial intelligence (AI) enable objective scar assessment and personalized surgical planning. However, current limitations remain, including the absence of a cleft lip-specific scar scale, insufficient long-term follow-up data, and unresolved timing of early interventions in infants. Overall, this review reframes scar management as one component of secondary nasolabial revision and emphasizes subunit-based reconstruction, individualized timing, and cautious interpretation of the available evidence.

Secondary narrow nostril deformity after unilateral cleft lip repair remains a stubborn clinical challenge, with an incidence of approximately 84%. It compromises both nasal airway function and facial esthetics. The etiology is multifactorial, involving congenital tissue deficiencies, abnormal orbicularis oris insertion, and iatrogenic deformities resulting from primary repair. Current reconstructive approaches can be broadly categorized into tissue augmentation, structural reinforcement, and contour-modifying strategies, with postoperative nasal retainers serving as a key adjunct device. Although studies have suggested benefits in improving nasal symmetry and airway patency, variability in surgical indications and outcomes has hindered the establishment of a unified consensus. The authors provide an overview of current surgical strategies and postoperative management for secondary narrow nostril deformity, aiming to support more precise treatment planning and improved surgical results.

Pituitary neuroendocrine tumours (PitNETs) commonly present with symptoms related to mass effect or hormonal dysfunction, including headache, visual disturbances, and endocrine abnormalities. However, atypical presentations without neurological or hormonal "red flag" symptoms may delay diagnosis, particularly in primary care settings where benign upper respiratory conditions are more frequently encountered. We report the case of a 56-year-old postmenopausal woman who presented with a five-month history of persistent postnasal drip, chronic non-productive cough and a sensation of nasal congestion characterised by fullness in the nasal and retro-orbital region. Despite conservative medical management, persistent symptoms prompted a computed tomography (CT) of the brain and paranasal sinuses, which unexpectedly revealed a sellar mass extending into the left sphenoid sinus. Subsequent magnetic resonance imaging (MRI) confirmed a 3.4cm pituitary macroadenoma with left cavernous and sphenoid sinus invasion, left internal carotid artery encasement, optic nerve involvement, and imaging features of pituitary apoplexy. Hormonal evaluation showed hyperprolactinaemia, and histopathology following endoscopic endonasal resection confirmed a lactotroph PitNET. This case highlights the importance of diagnostic reassessment in patients with persistent symptoms and demonstrates that clinically significant PitNETs can masquerade behind common benign upper respiratory conditions.

Background/Objectives: Human breathing occurs through either the nasal or the oral route. Nasal breathing is the physiological mode of ventilation and contributes to nitric oxide delivery, upper-airway regulation, and efficient pulmonary gas exchange. In contrast, chronic oral breathing has been associated with upper-airway dysfunction, impaired nocturnal oxygenation, and chronic intermittent hypoxia, conditions increasingly associated with cardiovascular, metabolic, respiratory, neurocognitive, and oncological diseases. To determine whether adults with cancer exhibit structural and functional craniofacial characteristics associated with oral breathing patterns and altered nocturnal oxygenation. Methods: We conducted an exploratory case-control study including adults with cancer and matched controls. Participants underwent a standardized multidimensional airway assessment comprising symptom evaluation using the STOP-BANG questionnaire, structured clinical examination of upper-airway and orofacial characteristics, craniofacial assessment, cone-beam computed tomography (CBCT), and home respiratory polygraphy to characterize upper-airway phenotype and nocturnal oxygenation patterns. Results: Adults with cancer exhibited impaired nocturnal oxygenation despite comparable apnea-hypopnea index values. They also exhibited a higher prevalence of structural and functional upper-airway abnormalities, including restricted tongue mobility, anterior open bite, and reduced maxillary transverse dimensions. Conclusions: This exploratory study identifies a distinct upper-airway phenotype in adults with cancer, characterized by craniofacial and functional features associated with impaired nocturnal oxygenation. These findings suggest that upper-airway anatomy and nocturnal oxygenation may contribute to systemic disease vulnerability and warrant further investigation.

Background/Objectives: Branchio-oto syndrome (BOS) is an autosomal dominant disorder primarily associated with pathogenic variants in EYA1, mainly characterized by branchial anomalies, auricular abnormalities, and hearing loss. However, the co-occurrence of inner ear malformations in BOS remains understudied, especially severe malformations. This study aimed to investigate the clinical and genetic characteristics of patients with EYA1-associated BOS, with emphasis on cochlear nerve deficiency (CND). Methods: From January 2020 to April 2026, patients diagnosed with EYA1-associated BOS at an otology outpatient clinic in a tertiary hospital were included. Clinical manifestations, audiological assessments, imaging and genetic findings were analyzed. Results: Thirteen patients (six females and seven males) from eight unrelated families aged 0.3-58.3 years were enrolled. Branchial cleft fistulas and preauricular pits were each observed in 76.9% (10/13) of patients. The mean pure-tone average was 74.3 ± 20.7 dB HL. Eight EYA1 variants (four truncating, two large deletions, and two splicing) were identified. Among these, five were novel (c.320_329del, c.518del, c.1307dupT, c.1475+1G>A, and exon 12-18 deletion). CND was detected in 38.5% (5/13) of patients and 26.9% (7/26) of ears. Patients with CND carried either truncating variants (n = 3) or large deletions (n = 2) of EYA1. No CND was observed in patients with splicing variants. Conclusions: This study identifies five novel EYA1 pathogenic variants and suggests that CND may be a relatively common radiologic feature in EYA1-associated BOS, particularly among patients with truncating variants or large deletions, although larger studies are needed to confirm this association.

Anatomical variations in the lateral nasal wall and nasal septum osteotomies are of critical importance in patients with dentofacial deformities undergoing Le Fort I osteotomy. These structural differences may increase the risk of intraoperative complications. Therefore, this study aimed to evaluate the anatomical differences of the lateral nasal wall and nasal septum between individuals with unilateral cleft lip and palate(UCLP) and non-cleft controls. A total of 106 participants were included:53 with UCLP and 53 healthy individuals. From axial CBCT sections, linear measurements of three different regions of the lateral nasal wall(Length I, II, III) were obtained, and the corresponding angular measurements(Angles α and β) were calculated. In addition, the distance between the intended osteotomy line during septal osteotomy and the undesired osteotomy line close to the sphenoid sinus, as well as the angle between these two osteotomies(Angle x), were assessed. The results showed that the UCLP group had significantly lower values for Length I, II, III and Angle α compared with the control group, whereas Angle β was significantly higher in the UCLP group (p = 0.007).The distance between the intended and undesired osteotomy lines was also significantly lower in the UCLP group(p<0.001). No significant difference was found in Angle x between the groups(p=0.965). This study demonstrates distinct anatomical differences in the lateral nasal wall and nasal septum of UCLP patients and emphasizes the importance of planning the direction, depth, and safety margins of osteotomy lines according to individual anatomical variations. Preoperative evaluation with CBCT plays a crucial role in enhancing surgical safety and minimizing complication risks.