Stickler syndrome is a hereditary connective tissue disorder, characterized in ocular manifestations by high myopia and vitreous abnormalities. The progression of the disease can lead to giant retinal tear and rhegmatogenous retinal detachment, making it the most common cause of inherited pediatric retinal detachment. Surgical intervention is the primary treatment for retinal detachment associated with Stickler syndrome. However, there are currently no evidence-based management strategies. Patients typically require multiple surgeries, with low reattachment rates and high recurrence rates, emphasizing the importance of prophylactic treatment. Current prophylactic measures include scleral bucking, laser photocoagulation and retinal cryotherapy, but their absolute benefits remain insufficiently supported. This review summarizes recent advances in the prophylaxis and treatment of retinal detachment in Stickler syndrome, aiming to provide new insights and essential references for the prevention and treatment for such conditions.

Two male patients with bifid rib-basal cell nevus-jaw cyst syndrome (BCNS) were admitted to Department of Stomatology, the First Affiliated Hospital of Bengbu Medical College due to radiological findings of multiple low density shadows in the jaw. Clinical and imaging findings showed thoracic malformation, calcification of the tentorium cerebellum and falx cerebrum as well as widening of the orbital distance. Whole exon high-throughput sequencing was performed in two patients and their family members. The heterozygous mutations of c.C2541C>A(p.Y847X) and c.C1501C>T(p.Q501X) in PTCH1 gene were detected in both patients. Diagnosis of BCNS was confirmed. The heterozygous mutations of PTCH1 gene locus were also found in the mothers of the two probands. Proband 1 showed clinical manifestations of low intelligence, and heterozygous mutations of c.C2141T(p.P714L) and c.G3343A(p.V1115I) were detected in FANCD2 gene. Proband 2 had normal intelligence and no FANCD2 mutation. The fenestration decompression and curettage of jaw cyst were performed in both patients. Regular follow-up showed good bone growth at the original lesion, and no recurrence has been observed so far.
Humans ; Male ; Basal Cell Nevus Syndrome/diagnosis* ; Mutation ; Nevus ; Patched-1 Receptor/genetics* ; Pedigree ; Ribs/abnormalities*

Objective:To explore the role of digital three-dimensional printing technology and multifunctional occlusal splint in the treatment of mandibular fracture in children.Methods:From January 2006 to January 2022, 42 children with mandibular fracture were treated by Department of Stomatology, in The First Affiliated Hospital of Bengbu Medical College, including 25 males and 17 females. The patients, aged from 4 to 12 years, with the median age was 10 years old, were divided into observation group (22 cases) and routine group (20 cases) according to the treatment methods. In the observation group, the multifunctional occlusal splint was made before operation, and the CT data of the children were imported into Mimics software in".dicom"format, and the displaced mandible was virtually reset. The jaw reduction model was made by three-dimensional printing, and the surgical operation was simulated on the reduction model to determine the model and position of the internal fixation device and shape it. During the operation, the fracture was reduced and fixed according to the preoperative design. The conventional group was treated with open reduction and internal fixation of mandibular fracture by traditional methods, and the clinical application value was compared and analyzed through the intraoperative situation, occlusal relationship, and follow-up of the two groups.Results:The total intraoperative bleeding volume [(30.25±4.02) ml] and surgical time [(64.3±9.2) min] in the observation group were significantly lower than those in the conventional group [(35.13±5.69) ml and (84.6±13.9) min, respectively] ( F=6.18, P=0.003; F=1.32, P=0.001). The excellent and good rate of occlusal relationship in the observation group [96% (21/22)] was significantly higher than that in the conventional group [85% (17/20)] ( F=4.27, P=0.039). The incidence of complications, the observation group, 1 case of poor occlusion, 1 case of postoperative infection; In the routine group, there were 3 cases with poor occlusion, 1 case with nerve injury, 1 case with root injury and 1 case with tooth germ injury. Conclusions:The application of digitization three-dimensional printing technology combined with multifunctional occlusal splint in children′s mandibular fracture is minimally invasive, safe, efficient and accurate, and the clinical effect is good.

Objective:The aim of this study was to explore the application of maxillary osteotomy plate and positioning guide plate in maxillary Le Fort Ⅰ osteotomy to eliminate the postoperative error caused by condylar displacement.Methods:Patients suffered from skeletal malocclusion and needed Le Fort Ⅰ osteotomy between January 2018 and November 2020 were selected from the Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Bengbu Medical College. All patients were scanned with 64 slice spiral CT. The DICOM format data were analyzed using the Simplant software to reconstruct the virtual three-dimensional model of the jaw before operation. Then, the measurement of indexes and the maxillary Le Fort Ⅰ osteotomy were carried out on the virtual three-dimensional model, respectively. 3D-printed osteotomy guide plate and positioning guide plate were used to determine the osteotomy line and the position of maxillary advancement. 3D-printed tooth supported occlusal plate was used to support the mandibular sagittal split and retraction. The differences of 10 indexes between the two groups (virtual operation and surgery) were analyzed by paired t test using SPSS 22.0. Results:A total of 8 patients (5 males and 3 females) needed maxillary Le Fort Ⅰ osteotomy aged from 18 to 39 years old were recorded. The deviation of age in these patients was 24.8. The 3D-printed guide plate and tooth supporting occlusal plate were positioned accurately in surgery. All the operations were successful with primary healing of the incision and stable occlusion, and without joint clicking. There was no significant difference on the 10 indexes between the groups of virtual operation and surgery ( P>0.05). Conclusions:The application of maxillary osteotomy plate and positioning guide plate can effectively and accurately control the three-dimensional movement of the maxilla and improve the precision of maxillary Le fort Ⅰ osteotomy in orthognathic surgery, making the surgical effect highly consistent with the preoperative design.

Objective:The aim of this study was to explore the application of maxillary osteotomy plate and positioning guide plate in maxillary Le Fort Ⅰ osteotomy to eliminate the postoperative error caused by condylar displacement.Methods:Patients suffered from skeletal malocclusion and needed Le Fort Ⅰ osteotomy between January 2018 and November 2020 were selected from the Department of Oral and Maxillofacial Surgery, the First Affiliated Hospital of Bengbu Medical College. All patients were scanned with 64 slice spiral CT. The DICOM format data were analyzed using the Simplant software to reconstruct the virtual three-dimensional model of the jaw before operation. Then, the measurement of indexes and the maxillary Le Fort Ⅰ osteotomy were carried out on the virtual three-dimensional model, respectively. 3D-printed osteotomy guide plate and positioning guide plate were used to determine the osteotomy line and the position of maxillary advancement. 3D-printed tooth supported occlusal plate was used to support the mandibular sagittal split and retraction. The differences of 10 indexes between the two groups (virtual operation and surgery) were analyzed by paired t test using SPSS 22.0. Results:A total of 8 patients (5 males and 3 females) needed maxillary Le Fort Ⅰ osteotomy aged from 18 to 39 years old were recorded. The deviation of age in these patients was 24.8. The 3D-printed guide plate and tooth supporting occlusal plate were positioned accurately in surgery. All the operations were successful with primary healing of the incision and stable occlusion, and without joint clicking. There was no significant difference on the 10 indexes between the groups of virtual operation and surgery ( P>0.05). Conclusions:The application of maxillary osteotomy plate and positioning guide plate can effectively and accurately control the three-dimensional movement of the maxilla and improve the precision of maxillary Le fort Ⅰ osteotomy in orthognathic surgery, making the surgical effect highly consistent with the preoperative design.

Objective:To explore the application value of digital three-dimensional(3D) reconstruction technology in the repair of oral and maxillofacial defects with superficial inferior epigastric artery (SIEA) flap.Methods:Twelve cases of oral cancer patients, including 8 males and 4 females; aged (57.4±12.6) years, were selected from the Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Bengbu Medical College from January 2018 to October 2019 and were proposed to repair with SIEA flap. There were 10 cases of squamous cell carcinoma, one case of adenoid cystic carcinoma and 1 case of mucinous epidermal carcinoma. The data were imported into AW4.7 software for post-processing. The left or right dominant donor area was selected to clarify the origin, diameter, alignment, and location of penetration point of the flap blood supply, and digital 3D reconstruction technology was used to guide the flap preoperative design.Results:Eleven cases were repaired by SIEA flap in 12 patients, one case was repaired by superficial iliac artery flap because the source artery was undiscovered, one case had venous vascular crisis after surgery, and the rest of the flap survived. In 11 patients repaired with SIEA flap, there was no significant difference between the preoperative SIEA diameter measured by CTA [(1.0±0.3) mm] and the actual measured value [(1.1±0.3) mm] ( P>0.05). The follow-up was 6 to 12 months, with an average of 10 months, and the donor-receiver areas were all healed in phase Ⅰ. No obvious complications occurred, and the abdominal scar was hidden. Conclusions:In the SIEA flap repair oral and maxillofacial defect reconstruction surgery, the use of digital 3D reconstruction technology can objectively reflect the diameter and the location of the superficial artery of the abdominal wall before surgery, effectively reduce the difficulty and risk of flap surgery.

Objective:To investigate the clinical effect of thin superficial inferior epigastric artery flaps in repairing soft tissue defects after buccal cancer surgery.Methods:From January 2018 to October 2019, 6 patients with buccal cancer who underwent surgery were constructed with thin superficial inferior epigastric artery flaps, including 2 males and 4 females, aged 43 to 68 years, with an average of 61.5 years. Doppler ultrasound was utilized of all patients to design flap preoperatively . According to the size of the affected area defect, according to the shape and direction of the blood vessels, a thin superficial inferior epigastric artery flap was elevated above the Scarpas fascia layer and transferred to repair soft tissue defects after buccal cancer surgery. The survival and functional recovery of the flap were observed.Results:All 6 flaps survived. The superficial inferior epigastric artery flaps ranged from 5.0 cm×7.0 cm to 7.0 cm×9.0 cm. The thickness of the flaps ranged from 0.5 cm to 1.3 cm, and the average thickness was 0.8 cm. The pedicle length is 6.0-9.0 cm.Four of them anastomosed to the superficial inferior epigastric veins and companion vein, 2 cases only anastomized superficial inferior epigastric veins . The follow-up period ranged from 3 to 12 months, with an average of 10 months. The cheek shape was good, the mouth opening was normal, there was no obvious bloating, and no secondary surgery was required. Linear scars were left on the donor site, with concealed location and no impairment of abdominal wall function.Conclusions:The donor site of the thin superficial inferior epigastric artery flap is small, the scar is concealed, the cheek is not bloated, and the opening degree of mouth is satisfactory. It is a good choice for reconstructing postoperative defect of cheek cancer.

Objective:To investigate the clinical effect of thin superficial inferior epigastric artery flaps in repairing soft tissue defects after buccal cancer surgery.Methods:From January 2018 to October 2019, 6 patients with buccal cancer who underwent surgery were constructed with thin superficial inferior epigastric artery flaps, including 2 males and 4 females, aged 43 to 68 years, with an average of 61.5 years. Doppler ultrasound was utilized of all patients to design flap preoperatively . According to the size of the affected area defect, according to the shape and direction of the blood vessels, a thin superficial inferior epigastric artery flap was elevated above the Scarpas fascia layer and transferred to repair soft tissue defects after buccal cancer surgery. The survival and functional recovery of the flap were observed.Results:All 6 flaps survived. The superficial inferior epigastric artery flaps ranged from 5.0 cm×7.0 cm to 7.0 cm×9.0 cm. The thickness of the flaps ranged from 0.5 cm to 1.3 cm, and the average thickness was 0.8 cm. The pedicle length is 6.0-9.0 cm.Four of them anastomosed to the superficial inferior epigastric veins and companion vein, 2 cases only anastomized superficial inferior epigastric veins . The follow-up period ranged from 3 to 12 months, with an average of 10 months. The cheek shape was good, the mouth opening was normal, there was no obvious bloating, and no secondary surgery was required. Linear scars were left on the donor site, with concealed location and no impairment of abdominal wall function.Conclusions:The donor site of the thin superficial inferior epigastric artery flap is small, the scar is concealed, the cheek is not bloated, and the opening degree of mouth is satisfactory. It is a good choice for reconstructing postoperative defect of cheek cancer.

To evaluate the clinical effect of digital assisted chimeric deep circumflex iliac artery perforator flap (DCIAPF) in the reconstruction of mandibular composite defects. Methods From January, 2018 to January, 2019, 6 cases of mandibular tumor patients with postoperative defect within side were treated. Preoperative CTA was used to evaluate the deep branches of spin iliac artery.Digital simulation software and 3D printing technolo-gy was taken, vascularized iliac flap of the design guide of bone was made, and the rebuilding effect was simulated. DCIAPF was used to repair the defect of lower jawbone. The donor sites were sutured directly. The patients were fol-lowed-up in outpatient department for 3-6 months to evaluate the recovery of the patient′s shape, jaw height and oc-clusal function, as well as the complications in the donor area. Results Postoperation pathological examination re-sults: ameloblastoma in 2 cases, 4 cases of gingival cancer. The length of cut out ilium was 6.0-13.0 cm, carrying the flap area of 3.0 cm×1.0 cm-6.0 cm×5.0 cm.Six cases of DCIAPF and iliac bone flap survived.The shape, mandibular height and occlusal function were satisfactory.And no obvious complications were found in the donor area. Conclu-sion The blood supply of DCIAPF is rich with enough bone mass and height. The position of terminal skin perfora-tors is invariant. The complications of donor sites is less. With the help of digital technology, the accuracy of mandibular defect repair and the 3-dimensional wound repair can be realized, and provides an advantage condition for subsequent dental implant.It is one of the ideal method of reconstruction of mandibular defect.

Objective: To investigate the clinical effect of free lower abdominal perforator flaps assisted by color Doppler ultrasound in repairing oral maxillofacial soft tissue defects. Methods: From June 2018 to March 2019, five patients with oral cancer underwent surgical treatment. There were 2 males and 3 females, age from 45-69 years old. At the same time, free lower abdominal flaps pedicled with superficial circumflex iliac artery or superficial inferior epigastric artery were used to repair oral maxillofacial soft tissue defects under preoperative color Doppler ultrasound evaluation and localization. Results: All the five cases survived. Three cases were repaired with superficial inferior epigastric artery flap and two cases were repaired with superficial circumflex iliac artery flaps. These flaps ranged from 5 cm ×6 cm to 7 cm×9 cm. The follow-up period ranged from 3 to 12 months, with an average of 6 months. The flaps were soft, without obvious swelling, hairless growth, scarless contracture and limited mouth opening. All donor and recipient areas were healed in one stage. Conclusions The lower abdominal perforator flaps assisted by color Doppler ultrasound for repairing oral and maxillofacial soft tissue defects are characterized by accurate selection and localization of blood vessels, convenient extraction of skin flaps and minimal morbidity of donor site. It is a good method for repairing oral and maxillofacial soft tissue defects.