目的分析接受巨舌缩小手术的贝克威思-威德曼综合征(Beckwith-Wiedemann syndrome,BWS)患儿的4种基因分型与临床特征的关联性。方法回顾性分析2019年1月至2023年12月在厦门市儿童医院耳鼻咽喉头颈外科接受巨舌缩小手术治疗的83例BWS患...目的分析接受巨舌缩小手术的贝克威思-威德曼综合征(Beckwith-Wiedemann syndrome,BWS)患儿的4种基因分型与临床特征的关联性。方法回顾性分析2019年1月至2023年12月在厦门市儿童医院耳鼻咽喉头颈外科接受巨舌缩小手术治疗的83例BWS患儿临床资料。收集患儿临床特征(脐膨出、面部火焰斑、隐睾、智力发育、心脏疾病、内脏异常)的发生率及基因分型比例,分析4种基因分型与临床特征是否存在关联性。结果本研究纳入的83例BWS患儿中,脐膨出发生率最高,为71.08%(59/83);其后依次为巨大儿、偏侧增生、火焰斑、内脏肥大,发生率分别为68.67%(57/83)、57.83%(48/83)、46.99%(39/83)、39.76%(33/83)。分子诊断明确者49例,其中46例分子诊断阳性,阳性率为(93.88%,46/49),3例分子诊断阴性(6.12%,3/49)。基因分型结果显示,IC2型最常见,占分子诊断阳性者的52.18%(24/46);其次是IC1型,占34.78%(16/46)。IC1、IC2、pUPD及CDKN1 C 4种基因分型与临床特征之间的关联性分析结果显示,临床特征中的脐膨出、智力发育迟缓与基因分型存在关联(P<0.05)。结论BWS患者基因分型以IC2和IC1型为主,其基因分型可能影响特定临床表现,能为个体化诊疗提供依据。需要更进一步的研究验证基因分型-表型的关联及其机制。展开更多
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive condition associated with pre-natal and postnatal overgrowth with visceral and skeletal anomalies. Abnormal airway anatomy may complicate the perioperativ...Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive condition associated with pre-natal and postnatal overgrowth with visceral and skeletal anomalies. Abnormal airway anatomy may complicate the perioperative management of SGBS. However, there have been few reports regarding the anesthetic management of children with SGBS. We present the preoperative evalua-tion and intraoperative management of a 1.5-year-old child with SGBS undergoing plastic surgery for cleft palate. Sevoflurane-fentanyl anesthesia without a neuromuscular blocker was planned, due to the preoperative evaluation that airway management would be complicated by the macroglossia and short neck characteristic of SGBS. Fortunately, there was no difficulty in endotracheal intubation in the present patient due to careful planning of general anesthesia and meticulous airway management. Appropriate preoperative preparation for a difficult airway by the anesthe-siologist can ameliorate the difficulties inherent to the anesthetic management of patients with SGBS.展开更多
In the evaluation of the beauty and functional integrity of the lower face, the oral cavity, teeth, mandible, maxilla, and the size and position of the tongue are important. The tongue locates forward and is larger th...In the evaluation of the beauty and functional integrity of the lower face, the oral cavity, teeth, mandible, maxilla, and the size and position of the tongue are important. The tongue locates forward and is larger than normal in prognathism, in which the jaw protrudes from the skull. It is not clear whether an enlarged tongue causes the open bite, protrusion or dental arch misalignment, or is a result of them. Here, we report two patients with mandibular prognathism and relative macroglossia, which were treated by mandibular setback surgery using a bilateral sagittal split osteotomy (BSSO) and excision of the tongue. This procedure achieved aesthetic improvement of the face and dentition.展开更多
文摘目的分析接受巨舌缩小手术的贝克威思-威德曼综合征(Beckwith-Wiedemann syndrome,BWS)患儿的4种基因分型与临床特征的关联性。方法回顾性分析2019年1月至2023年12月在厦门市儿童医院耳鼻咽喉头颈外科接受巨舌缩小手术治疗的83例BWS患儿临床资料。收集患儿临床特征(脐膨出、面部火焰斑、隐睾、智力发育、心脏疾病、内脏异常)的发生率及基因分型比例,分析4种基因分型与临床特征是否存在关联性。结果本研究纳入的83例BWS患儿中,脐膨出发生率最高,为71.08%(59/83);其后依次为巨大儿、偏侧增生、火焰斑、内脏肥大,发生率分别为68.67%(57/83)、57.83%(48/83)、46.99%(39/83)、39.76%(33/83)。分子诊断明确者49例,其中46例分子诊断阳性,阳性率为(93.88%,46/49),3例分子诊断阴性(6.12%,3/49)。基因分型结果显示,IC2型最常见,占分子诊断阳性者的52.18%(24/46);其次是IC1型,占34.78%(16/46)。IC1、IC2、pUPD及CDKN1 C 4种基因分型与临床特征之间的关联性分析结果显示,临床特征中的脐膨出、智力发育迟缓与基因分型存在关联(P<0.05)。结论BWS患者基因分型以IC2和IC1型为主,其基因分型可能影响特定临床表现,能为个体化诊疗提供依据。需要更进一步的研究验证基因分型-表型的关联及其机制。
文摘Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked recessive condition associated with pre-natal and postnatal overgrowth with visceral and skeletal anomalies. Abnormal airway anatomy may complicate the perioperative management of SGBS. However, there have been few reports regarding the anesthetic management of children with SGBS. We present the preoperative evalua-tion and intraoperative management of a 1.5-year-old child with SGBS undergoing plastic surgery for cleft palate. Sevoflurane-fentanyl anesthesia without a neuromuscular blocker was planned, due to the preoperative evaluation that airway management would be complicated by the macroglossia and short neck characteristic of SGBS. Fortunately, there was no difficulty in endotracheal intubation in the present patient due to careful planning of general anesthesia and meticulous airway management. Appropriate preoperative preparation for a difficult airway by the anesthe-siologist can ameliorate the difficulties inherent to the anesthetic management of patients with SGBS.
文摘In the evaluation of the beauty and functional integrity of the lower face, the oral cavity, teeth, mandible, maxilla, and the size and position of the tongue are important. The tongue locates forward and is larger than normal in prognathism, in which the jaw protrudes from the skull. It is not clear whether an enlarged tongue causes the open bite, protrusion or dental arch misalignment, or is a result of them. Here, we report two patients with mandibular prognathism and relative macroglossia, which were treated by mandibular setback surgery using a bilateral sagittal split osteotomy (BSSO) and excision of the tongue. This procedure achieved aesthetic improvement of the face and dentition.
