Due to the complexity of clinical manifestations and the lack of standardized diagnostic criteria, it is still difficult to distinguish the etiological types of congenital edentulousness corresponding to genetic defects. This paper studies the application of deep learning image processing and digital image processing in medical images in detail and analyzes the functions of congenital edentulous hotspot genes. The cases in the control group and the study group were collected, and the gene mutations of direct sequence MSX1, PAX9, AXIN2, and BMP were analyzed, and new pathogens were found. The experimental results suggest that PAX9 and MSX1 genes may have a synergistic effect in nonsyndromic congenital edentulous patients. In severely missing teeth, the role of PAX9 may be greater than that of MSX1. The experimental results will help us lay the foundation for further understanding of the disease in the future.

The objective of this study was to compare the indications and outcomes of the total inferior border ostectomy and T-shape genioplasty. A retrospective study was conducted using the clinical notes and records of patients who underwent total inferior border ostectomy (group 1, n = 42) and T-shape genioplasty (group 2, n = 60). The outcomes were evaluated by assessment of computed tomography images combined with medical records and photographs. Lower facial height, chin width, chin symmetry, and facial proportions, as well as patient satisfaction and complications were investigated. The data were collected preoperatively and 6-24 months postoperatively. All 102 patients showed an improved lower facial contour. No severe complications were observed during the follow-up period. Although the postoperative lower to midfacial height ratios were similar in the two groups (P = 0.080), both the preoperative and postoperative chin width to lower facial height ratios were lower in group 1 (both P < 0.001). A larger amount of chin narrowing, as well as better chin symmetry were observed in group 1 (P < 0.001). In conclusion, compared to the T-shape genioplasty, the total inferior border ostectomy is well suited for a longer, wider, and more asymmetrical chin. The surgical options should be considered and chosen quantitatively to achieve aesthetically pleasing results.

Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient.
A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients.
Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.

Marcus Gunn Syndrome (MGS), mostly occurring in congenital ptosis patients, is characterized by jaw movement evoking ptotic eyelid retraction, followed by collapse. Inverted, bilateral and acquired MGS were also reported. Some cases manifest MGS only temporarily in life. These features suggest MGS may be due to multiple pathogeneses, which are still unclear. People also classify MGS as a kind of trigeminal oculomotor synkenesis (TOS), like Duane syndrome (DS), in which ocular adduction prompts eyelid moving or eyeball retraction. The most popular hypothesis for TOS is congenital miswiring, as evidence supporting this hypothesis is found in DS cases: hypoplasia abducens nerve fusing with a branch of oculomotor nerve is observed. Seven mutant genes have been identified associated with TOS and two of them are found among MGS cases. Accordingly, these mutant genes may dominate cranial nerve misconnection and generate TOS. However, unlike in DS case, evidence of miswiring is not encountered in most MGS cases. The fact is that two \"MGS genes\" are from congenital fibrosis of extraocular muscle (CFEOM) cases presenting with associated MGS. But most of MGS cases do not suffer CFEOM. Thus, mutant genes dominated congenital miswiring may not be the pathogenesis for the majority of MGS. As an alternate pathogenic pathway, a \"release hypothesis\" proposed that MGS is a primitive physiologic reflex that became suppressed during phylogenetic development but could be released under certain pathologic conditions. This hypothesis was and is overlooked because the hypothesized reflex arc has not been defined. Decades ago, a neural tract tracing study in Xenopus revealed a direct projection from masticator afferent mesencephalic trigeminal nucleus (Vme) neurons to oculomotor and trochlear nucleus (III/IV). In clinical studies, co-firing of pterygoid muscle and levator palpebrae was recorded by electromyography during onset of MGS, and stimulating pterygoid muscle nerve elicited eyelid retraction. Recently, retraction of the ipsilateral eyelid by stimulating the trigeminal motor root was even observed in cases without congenital ptosis and MGS, highlighting the existence of a latent pathway. In rats, recently we demonstrated projections from the Vme neurons to the III/IV, and to their premotor neurons in interstitial nucleus of Cajal by neural tract tracing and electrophysiologic studies. Fos expression in pre-oculomotor neurons was induced by repeated down stretching the lower jaw. Combining previous and our own studies, we assumed the Vme neurons is excited when jaw moves and in turn, some eyelid activity related III motoneurons are activated through projections of Vme to oculomotor system, like in Xenopus. Genetic factors may dominate to what extent this primitive reflex-arc is preserved, which consequently determines phenotype.