OBJECTIVE: To explore the genetic etiology of a Chinese boy affected with Oculo-facio-cardio-dental syndrome (OFCD). METHODS: A child diagnosed with OFCD at West China Hospital of Sichuan University on September 21, 2024 was selected as the study subject. Clinical phenotype of the child was collected through ophthalmologic examination, cardiac ultrasonography, and X-ray imaging. Potential pathogenic variants were detected by trio-whole exome sequencing (Trio-WES). Candidate variant was validated with TA-cloning followed by Sanger sequencing. Mosaic variant was analyzed by ultra-deep sequencing (10,000-fold) and quantitative PCR. This study was approved by the Medical Ethics Committee of the West China Hospital of Sichuan University (Ethics No.: 2019-772 ). RESULTS: The proband had presented with congenital cataracts, mitosis, atrial and ventricular septal defects, dental abnormalities, and right radioulnar synostosis. His mother also exhibited congenital cataracts and dental anomalies, suggesting a diagnosis of OFCD. Trio-WES revealed an novel heterozygous 14-bp deletion (c.4724_4737del) in exon 12 of the BCOR gene in the proband. Deep sequencing identified a mosaic BCOR c.4724_4737del mutation in approximately 3.4% of peripheral leukocytes from his mother. Quantitative PCR analysis also confirmed the presence of this low-level mosaicism. The 14-bp deletion was predicted to cause a frame shift and premature termination (p.Met1575AsnfsTer6). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PVS1+PM2+PP1). CONCLUSION Above findings have expanded the spectrum of BCOR mutations associated with OFCD, which highlighted the role of low-level mosaicism with maternal transmission and provided a basis for genetic counseling and reproductive guidance for the family.
Humans ; Male ; Repressor Proteins/genetics* ; Proto-Oncogene Proteins/genetics* ; Tooth Abnormalities/genetics* ; Eye Abnormalities/genetics* ; Microphthalmos/genetics* ; Child ; Sequence Deletion ; Female ; Cataract/congenital* ; Heart Septal Defects

OBJECTIVE

To report a case of parotid cholesteatoma and concurrent squamous cell carcinoma of the temporal bone in a 51-year-old woman.

METHODS

Design: Case Report

Setting: Tertiary Government Training Hospital

Patient: One

RESULTS

A 51-year-old woman with a left parotid mass and ipsilateral external auditory canal mass and chronic bilateral otorrhea had parotid biopsy histological features of cholesteatoma and temporal bone imaging suggestive of middle ear cholesteatoma and possible parotid region abscess. She underwent subtotal petrosectomy, mastoid obliteration and excision of the parotid mass. Histopathological examination of the parotid mass was consistent with cholesteatoma but tissue from the middle ear cavity showed well-differentiated squamous cell carcinoma.

CONCLUSION

While cholesteatomas typically arise within the temporal bone, they may occasionally present in atypical or distant sites. In cases where a cholesteatoma demonstrates an unusual location, aggressive behavior, or atypical clinical progression, a high index of suspicion should be maintained for the possibility of an underlying or coexisting temporal bone squamous cell carcinoma.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Parotid Diseases ; Cholesteatoma ; Ear Neoplasms ; Cancer Of Ear ; Carcinoma, Squamous Cell ; Squamous Cell Carcinoma Of Head And Neck

OBJECTIVES

To present a rare case of a 17-year-old girl with multiple odontogenic keratocysts, skeletal abnormalities, central nervous system and cutaneous anomalies.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 17-year-old Filipino girl presented with a one-year history of progressive left mandibular swelling. Orthopantomography revealed multiple cysts involving the mandible and maxillae. Histopathologic examination of incision biopsy specimens confirmed odontogenic keratocysts. Other physical examination findings included coarse face and multiple palmar and plantar pits. Radiologic investigations demonstrated calcification of the falx cerebri and tentorium cerebelli, bifid rib and cervicothoracic scoliosis. Based on clinical, radiological, and histopathological findings, a diagnosis of Gorlin-Goltz syndrome was established. The patient underwent enucleation and curettage of the cysts with peripheral ostectomy, and there was no recurrence on repeat orthopantomography at six months and two years post-operatively. However, on the fourth year, the patient claimed there was a mandibular cyst which was not verified as she was lost to follow-up.

CONCLUSION

This case highlights the importance of recognizing multiple odontogenic keratocysts as a potential manifestation of Gorlin-Goltz Syndrome. Early diagnosis enables appropriate management and long term surveillance to monitor for other manifestations of this syndrome that may occur later in life.

Human ; Female ; Adolescent: 13-18 Yrs Old ; Basal Cell Nevus Syndrome ; Mandible ; Radiography, Panoramic ; Focal Dermal Hypoplasia ; Ribs ; Scoliosis ; Spinal Cord ; Women ; History ; Lost To Follow-up ; Diagnosis

OBJECTIVES

To report a case of a giant pleomorphic adenoma in a 64-year-old Filipino woman, its management and surgical outcome.

METHODS

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient: One

RESULTS

A 64-year-old woman presented with a 50-year history of a slow growing, painless, left infra-auricular mass, not associated with facial weakness, xerostomia, or hearing loss. Computed tomography revealed a 14 x 15 x 19 cm large lobulated complex enhancing mass with calcifications and septations, with no enlarged lymph nodes identified in the neck. Fine needle aspiration cytomorphology was consistent with pleomorphic adenoma. The patient underwent superficial parotidectomy with facial nerve preservation. The facial nerve was identified using standard landmarks. Final histopathological findings were consistent with pleomorphic adenoma measuring 23.5 cm x 11.5 cm x 15 cm and weighing 2177 grams

CONCLUSION

Pleomorphic adenoma can grow to a gigantic size if left untreated. It often presents as a chronic, slow growing and painless swelling. The approach to its diagnosis is mainly clinical and can be confirmed by fine needle aspiration biopsy and computed tomography scan. In our case, the standard landmarks for facial nerve identification were still reliable despite the size of the mass, producing good post-surgical outcomes.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Adenoma ; Lymph ; Needles ; Diagnosis ; Xerostomia ; Hearing Loss ; Neck ; Research Report ; Tomography ; Facial Nerve

Congenital orofacial cleft, the most common birth defect in the maxillofacial region, exhibits a wide range of prognosis depending on the severity of deformity and underlying etiology. Non-syndromic congenital orofacial clefts typically present with milder deformities and more favorable treatment outcomes, whereas syndromic congenital orofacial clefts often manifest with concomitant organ abnormalities, which pose greater challenges for treatment and result in poorer prognosis. This consensus provides an elaborate classification system for varying degrees of orofacial clefts along with corresponding diagnostic and therapeutic guidelines. Results serve as a crucial resource for families to navigate prenatal screening results or make informed decisions regarding treatment options while also contributing significantly to preventing serious birth defects within the development of population.
Humans ; Cleft Lip/diagnosis* ; Cleft Palate/diagnosis* ; Consensus ; Prenatal Diagnosis ; Female

OBJECTIVES: This study aims to explore the association between single nucleotide polymorphisms (SNPs) loci near the haplotype region hg19 chr9:100560865-100660865 of the forkhead box E1 (FOXE1) gene and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P) in western Han Chinese population. METHODS: In the first stage, our study recruited 159 NSCL/P patients and performed targeted region sequencing to screen SNPs loci near the haplotype region of the FOXE1 gene associated with NSCL/P. In the second stage, we selected 21 common SNPs and re-enrolled 1 000 non-syndromic cleft lip only (NSCLO) patients, 1 000 non-syndromic cleft palate only (NSCPO) patients, and 1 000 normal controls to verify the association. PLINK software was used to perform Hardy-Weinberg equilibrium (HWE) test. Association analysis for common variants, gene burden analysis for rare mutations, and function prediction of SNPs with non-synonymous mutations were performed using Mutation Taster and other software programs. RESULTS: In the first stage, 126 variants, including 76 single nucleotide variants and 50 insertion-deletions were identified. All the included SNPs confirmed to HWE, and the results of gene burden analysis and prediction of functional harmfulness for rare variants were not statistically significant. Association analysis showed that rs13292899 of the FOXE1 gene was significantly associated with NSCL/P (P=1.85E-27) and was also correlated with NSCLO (P=6.41E-23) and non-syndromic cleft lip with cleft palate (NSCLP) (P=2.36E-15) subtypes. In the validation phase, rs79268293 (P=0.013, P=0.022), rs10983951 (P=0.009 2, P=0.007 6), rs117227387 (P=0.009 2, P=0.007 6), rs3758250 (P=0.009 2, P=0.007 6), and rs116899397 (P=0.009 2, P=0.007 6) were significantly associated with NSCLO and NSCPO; rs13292899 (P=0.008 5), rs74606599 (P=0.008 3), rs143226042 (P=0.008 3), and rs117236550 (P=0.01) were associated with the occurrence of NSCLO; and rs12343182 (P=0.008 7), rs10119760 (P=0.012), rs10113907 (P=0.012), and rs13299924 (P=0.012) were associated with the occurrence of NSCPO. CONCLUSIONS This study found a new susceptible SNP rs13292899 of the FOXE1 gene that is closely associated with NSCL/P and NSCLO subtype and 13 other SNPs associated with NSCLO or NSCPO.
Female ; Humans ; Male ; China ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Forkhead Transcription Factors/genetics* ; Haplotypes ; Polymorphism, Single Nucleotide ; East Asian People/genetics*

OBJECTIVES: This study aimed to investigate the clinical characteristics of deciduous fused teeth and their inherited permanent-tooth performance type by using panoramic radiographs. METHODS: A total of 14 404 panoramic radiographs of 3- to 6-year-old children with deciduous dentition were collected from January 2023 to July 2024. The incidence of deciduous fused teeth was observed, and the abnormality of permanent teeth was recorded. SPSS 24.0 software was used for statistical analysis. RESULTS: The incidence of deciduous fused teeth was 3.06% (441/14 404). The order of dental position was as follows: mandibular deciduous incisors and cusp teeth fused (58.18%) > mandibular deciduous central and lateral incisors fused (30.91%) > maxillary deciduous central and lateral incisors fused (8.89%) > deciduous incisors and supernumerary teeth fused (2.02%). Deciduous fused teeth were found in 226 boys and 215 girls, with no significant difference between the sexes (P>0.05). We observed one pair (87.76%, 387/441) and two pairs (12.24%, 54/441) of fused teeth (54/441), respectively. A total of 287 pairs of fusion teeth on the right side more than 208 pairs on the left side, and the difference between them was statistically significant (P<0.01). More fusion teeth existed in mandibular deciduous teeth (443 pairs) than in maxillary ones (54 pairs), and the difference between them was statistically significant (P<0.01). More unilateral deciduous teeth (387 subjects) were found than bilateral ones (54 subjects), and the difference between them was statistically significant (P<0.01). Three types of deciduous fused teeth with inherited permanent teeth were observed as follows: 1) 49.49% (245/495) of inherited permanent teeth was absent, 2) 46.67% (231/495) of inherited permanent teeth was not absent, and 3) the number of fused permanent teeth accounted for 3.84% (19/495). CONCLUSIONS The incidence of deciduous fused teeth was 3.06%, mostly occurring in the lower anterior teeth region, with no gender difference. One pair of fused teeth is commonly observed, more often on the right than the left. These fusions occur more frequently in the mandible than the maxillary, and unilateral cases are more common than bilateral ones. Deciduous fused teeth had a certain impact on inherited permanent teeth. Pediatric dentists should pay attention to and closely observe whether any abnormality exists in the permanent dentition for early detection to prevent the harm caused by deciduous fused teeth.
Humans ; Tooth, Deciduous/abnormalities* ; Male ; Child ; Female ; Child, Preschool ; Dentition, Permanent ; Radiography, Panoramic ; Fused Teeth/diagnostic imaging* ; Incisor/diagnostic imaging* ; Tooth, Supernumerary/diagnostic imaging* ; Incidence ; Mandible

OBJECTIVES: This study aims to investigate factors influencing dental arch development in patients aged 0-6 years with cleft palate after Sommerlad-Furlow (SF) palatoplasty. METHODS: A total of 183 patients who underwent primary SF repair for cleft lip and palate before 18 months of age were included. Follow-ups were conducted at different ages, and digital dental casts of the maxillary dental arch were obtained using 3-matic Research 12.0 software. The length and width of the dental arch and palate were measured to explore developmental changes in the maxillary dental arch of the patients after the procedure. The study also investigated the influence of gender, age, cleft palate type, and relaxation incision on maxillary dental arch development. RESULTS: After SF, maxillary dental arch measurements showed statistically significant differences between children aged 0-2 years and those aged 3-6 years (P<0.05). However, no statistically significant differences were observed among different age groups within the 3-6 years range. Statistically significant differences were detected between males and females, with males having greater width of the posterior dental arch and palate (P=0.001) and shorter length of the anterior dental arch and entire dental arch (P<0.05). The unilateral cleft lip and palate group had shorter dental arch length (P<0.01) and wider posterior palate (P<0.01) than the cleft palate only group. Maxillary dental arch measurements had no statistically significant differences between groups with or without a relaxing incision. CONCLUSIONS Gender and age influence the width of the maxillary dental arch in children aged 0-6 years after SF, while age and cleft palate type affect dental arch length.
Humans ; Child, Preschool ; Male ; Cleft Palate/surgery* ; Female ; Child ; Infant ; Dental Arch/growth & development* ; Maxilla/growth & development* ; Cleft Lip/surgery* ; Age Factors ; Sex Factors ; Palate/surgery* ; Infant, Newborn

Muenke syndrome is an autosomal dominant genetic disorder that is typically characterized by unilateral or bilateral coronal synostosis, macrocephaly, midface hypoplasia, and developmental delays. This article reports a case of Muenke syndrome with a soft cleft palate. A heterozygous missense mutation c.749C>G (p.P250A) was identified in the FGFR3 gene through genetic testing. The patient exhibited typical features including coronal synostosis, bilateral hearing loss, right accessory auricle, and developmental delays and underwent surgery to repair the soft cleft palate. Cases of Muenke syndrome with cleft palate in the literature are relatively rare, and common associated symptoms include coronal suture craniosynostosis and hearing impairment. This article reports a differential diagnosis with other craniosynostosis syndromes and provides a reference for clinical diagnosis and treatment.
Humans ; Cleft Palate/surgery* ; Craniosynostoses/diagnosis* ; Mutation, Missense ; Palate, Soft/abnormalities* ; Receptor, Fibroblast Growth Factor, Type 3/genetics*

OBJECTIVES: A stable, reliable, and easily implementable clinical diagnostic method for marginal velopharyngeal insufficiency (MVPI) was established on the basis of the subjective hearing judgement of hypernasality and objective examination of velopharyngeal closure to address the lack of unified diagnostic criteria for MVPI. METHODS: Nasopharyngeal fiberscopy and speech assessment results were collected from postoperative patients with cleft palate. These results were used to analyze the differences in the distribution of nasal resonance in patients with different velopharyngeal closure ratios and the correlation between velopharyngeal closure ratios and nasal resonance status. Mild-to-moderate hypernasality with its corresponding elopharyngeal closure ratio was employed to establish the diagnostic criteria of MVPI. The reproducibility of the criteria and whether the patients with MVPI diagnosed by using the criteria exhibited significantly different speech characteristics compared with other patients were verified. RESULTS: A strong correlation was found between velopharyngeal closure ratios and nasal resonance (P<0.001). Mild-to-moderate hypernasality mainly corresponded to velopharyngeal closure ratios ranging from 90% to 99%, and the combination of the two characteristics as the diagnostic criteria for MVPI demonstrated good consistency (Kappa value=0.789, P<0.001). Moreover, under the diagnostic criteria, significant differences in nasal resonance (P<0.001), nasal emission (P=0.007), and misarticulation (P<0.001) were found between patients with velopharyngeal insufficiency and those with MVPI. CONCLUSIONS Combining the subjective hearing judgement of mild-to-moderate hypernasality with velopharyngeal closure ratios over 90% under nasopharyngeal fiberscopy provides a reliable and effective clinical method for diagnosing MVPI.
Humans ; Velopharyngeal Insufficiency/physiopathology* ; Reproducibility of Results ; Cleft Palate/surgery* ; Male ; Female ; Child