OBJECTIVE: To investigate the genetic etiology of a fetus diagnosed with Mandibulofacial dysostosis with microcephaly (MFDM). METHODS: A fetus that underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, on May 19, 2025 was selected for analysis. Results of fetal ultrasound findings, chromosomal karyotyping, copy number variation sequencing (CNV-seq), and whole-exome sequencing (WES) were collected. Sanger sequencing was performed for familial validation of the pathogenic variant. The Human Protein Atlas (HPA), STRING, and Simple ClinVar databases were queried to characterize the biological features of the candidate gene. Three-dimensional structures of the wild-type and variant proteins were modeled and analyzed, and the evolutionary conservation of the affected amino acid was assessed using UGENE. Prenatal phenotypes associated with EFTUD2 variants were summarized through a review of the literature. This study was approved by the Ethics Committee of Beijing Obstetrics and Gynecology Hospital, Capital Medical University (Ethics No.: 2025-KY-029-01). RESULTS: At 23⁺² weeks of gestation, ultrasound examination revealed bilateral microtia with low-set ears, mild micrognathia with a reduced mandibular-facial angle, a single umbilical artery, a slightly narrow aortic diameter, and trivial mitral regurgitation. Amniotic fluid karyotyping and CNV-seq showed no abnormalities. WES identified a de novo, previously unreported EFTUD2 variant, c.698dupA (p.V235Gfs*27), in the fetus. This frameshift variant is predicted to alter the structural integrity of the EFTUD2 protein. Literature review indicated that micrognathia and microtia or low-set ears are the most common sonographic features in fetuses with EFTUD2 variants, while secondary findings may include abnormal stomach bubble, cleft palate, single umbilical artery, gastrointestinal atresia, polyhydramnios, and reduced aortic diameter. CONCLUSION The EFTUD2: c.698dupA (p.V235Gfs*27) variant is likely the genetic cause underlying MFDM in this fetus.
Humans ; Mandibulofacial Dysostosis/diagnostic imaging* ; Microcephaly/diagnostic imaging* ; Female ; Pregnancy ; Ribonucleoprotein, U5 Small Nuclear/chemistry* ; Peptide Elongation Factors/chemistry* ; Fetus ; DNA Copy Number Variations/genetics* ; Adult ; Ultrasonography, Prenatal

OBJECTIVETo evaluate the diagnostic value of multi-slice spiral CT (MSCT) three dimensional (3D) reconstruction for maxillofacial diseases.

METHODSSixty patients with maxillofacial diseases underwent the scanning of MSCT with 3D reconstruction. Among them, 34 patients with maxillofacial fracture, 10 patients with maxillofacial tumors and tumor-like diseases, and 16 patients with congenital deformities. The MSCT scanned with slice thickness of 2 mm. The methods of 3D reconstruction included multi-planar reconstruction (MPR), shaded surface display (SSD), and volume rendering (VR). The results were compared with what was observed during operations.

RESULTSTotally 36 cases of maxillofacial fracture were shown by 2D or 3D imaging and were validated by the observations during operation. The MSCT with 3D reconstruction imaging was significantly superior to 2D axial imaging in maxillofacial fracture. Three dimensional imaging could clearly show the spacial anatomy of facial, fragment displacement, and tracing fracture lines. However, 2D imaging had better effectiveness than 3D imaging in observing deep structure and fine fracture. In maxillofacial tumors and tumor-like diseases, 3D imaging was significantly superior to 2D axial imaging in showing the tumor shape and spacial relationships between tumors and surrounding structures. Two dimensional imaging and MPR imaging were excellent to reveal internal structure and pathological changes of tumors. 2D imaging and MPR imaging also achieved better results in showing tumors extended to soft tissues. In maxillofacial congenital deformities, 3D imaging were superior than 2D imaging.

CONCLUSION3D imaging has an important value in the diagnosis and clinical assessment of maxillofacial fracture, tumor-like diseases, and congenital deformities.

Adolescent ; Adult ; Child ; Female ; Humans ; Imaging, Three-Dimensional ; methods ; Male ; Mandibulofacial Dysostosis ; diagnostic imaging ; Maxillofacial Abnormalities ; diagnostic imaging ; Maxillofacial Injuries ; diagnostic imaging ; Sensitivity and Specificity ; Tomography, Spiral Computed ; methods