Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement...Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.展开更多
BACKGROUND Congenital maxillomandibular syngnathia is an extremely rare disorder characterized by craniofacial malformations and inability to open the mouth adequately, which leads to problems with feeding, swallowing...BACKGROUND Congenital maxillomandibular syngnathia is an extremely rare disorder characterized by craniofacial malformations and inability to open the mouth adequately, which leads to problems with feeding, swallowing, and breathing as well as temporomandibular joint ankylosis. The main goal of the surgery is to release the ankylosis, establish functioning mandible, and prevent re-fusion.However, surgical procedures for this disease are rarely reported.CASE SUMMARY Here, we report a 7-mo-old girl with bilateral maxillomandibular syngnathia. The patient presented with difficulty in feeding, breathing, sounding, and swallowing and had developmental dysplasia. For treatment, we performed bone isolation by computer-assisted navigation and used silicone to fix the wound surface to prevent refusion of bone. To our knowledge, this is the only syngnathia case in the literature treated using computer-assisted navigation. With the guidance of precise navigation, we were able to minimize operation time by at least one hour,the patient's blood vessels, nerves, and tooth germs were well protected, and excessive bleeding was avoided. After six weeks, the patient showed improvement in mouth opening and no major issues of feeding.CONCLUSION Application of computer-assisted navigation can significantly improve accuracy,effectiveness, and surgical safety in correcting congenital maxillomandibular syngnathia.展开更多
Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data i...Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data in this review were mainly from Medline and PubMed articles published in English from 1990 to 2013.The search term was ＂Marfan＇s syndrome and sleep apnea＂.Study selection Clinical evidence about the epidemiology of obstructive sleep apnea in patients with Marfan＇s syndrome; the mechanism that causes obstructive sleep apnea; interventional therapy for patients with Marfan＇s syndrome,and coexisting obstructive sleep apnea.Results A high prevalence of obstructive sleep apnea exists in patients with Marfan＇s syndrome.The potential reasons are craniofacial abnormalities and lax upper airway muscles,which lead to high nasal airway resistance and upper airway collapse.Obstructive sleep apnea mechanically deteriorates aortic dilatation and accelerates progression of aortic aneurysms.The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan＇s syndrome.Conclusions Obstructive sleep apnea is strongly associated with Marfan＇s syndrome.Craniofacial abnormalities and lax upper airway are the main mechanisms.Untreated obstructive sleep apnea accelerates progression of aortic dissection and rupture.Effective therapies for obstructive sleep apnea could postpone the aortic dilatation in patients with Marfan＇s syndrome.展开更多
Van Maldergem综合征由编码原钙黏蛋白家族的成员DCHS1或FAT4的基因突变引起,是一种罕见的以生长迟缓、智力发育障碍、颅面畸形以及四肢和骨骼发育不良为特点的常染色体隐性遗传性疾病,诊断主要依靠临床表现及影像学特征。目前对于Van M...Van Maldergem综合征由编码原钙黏蛋白家族的成员DCHS1或FAT4的基因突变引起,是一种罕见的以生长迟缓、智力发育障碍、颅面畸形以及四肢和骨骼发育不良为特点的常染色体隐性遗传性疾病,诊断主要依靠临床表现及影像学特征。目前对于Van Maldergem综合征的报道较少,对此病的认识尚存不足。作者对该综合征的临床特征、诊断及鉴别诊断、分子遗传学及治疗等方面进行了综述,以提高对该疾病的认知。展开更多
文摘Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.
基金Supported by Ninth People's Hospital affiliated to Shanghai Jiao Tong University,School of Medicine "Multi-Disciplinary Team" Clinical Research Project,No.201701011
文摘BACKGROUND Congenital maxillomandibular syngnathia is an extremely rare disorder characterized by craniofacial malformations and inability to open the mouth adequately, which leads to problems with feeding, swallowing, and breathing as well as temporomandibular joint ankylosis. The main goal of the surgery is to release the ankylosis, establish functioning mandible, and prevent re-fusion.However, surgical procedures for this disease are rarely reported.CASE SUMMARY Here, we report a 7-mo-old girl with bilateral maxillomandibular syngnathia. The patient presented with difficulty in feeding, breathing, sounding, and swallowing and had developmental dysplasia. For treatment, we performed bone isolation by computer-assisted navigation and used silicone to fix the wound surface to prevent refusion of bone. To our knowledge, this is the only syngnathia case in the literature treated using computer-assisted navigation. With the guidance of precise navigation, we were able to minimize operation time by at least one hour,the patient's blood vessels, nerves, and tooth germs were well protected, and excessive bleeding was avoided. After six weeks, the patient showed improvement in mouth opening and no major issues of feeding.CONCLUSION Application of computer-assisted navigation can significantly improve accuracy,effectiveness, and surgical safety in correcting congenital maxillomandibular syngnathia.
基金This work was supported by grants from the National Natural Science Foundation of China （No. 81270926 to He Jinhan）, and Outstanding Scholar Foundation of Sichuan University （No. 2013SCU04A17 to He Jinhan）, and Cadres Health Care Committee Foundation of Health Department, Sichuan Province （No. GB2013101 to Mo Li）.
文摘Objective To review the current evidence about the prevalence of obstructive sleep apnea in patients with Marfan＇s syndrome,and discuss some proposed potential mechanisms for this relationship.Data sources The data in this review were mainly from Medline and PubMed articles published in English from 1990 to 2013.The search term was ＂Marfan＇s syndrome and sleep apnea＂.Study selection Clinical evidence about the epidemiology of obstructive sleep apnea in patients with Marfan＇s syndrome; the mechanism that causes obstructive sleep apnea; interventional therapy for patients with Marfan＇s syndrome,and coexisting obstructive sleep apnea.Results A high prevalence of obstructive sleep apnea exists in patients with Marfan＇s syndrome.The potential reasons are craniofacial abnormalities and lax upper airway muscles,which lead to high nasal airway resistance and upper airway collapse.Obstructive sleep apnea mechanically deteriorates aortic dilatation and accelerates progression of aortic aneurysms.The condition is reversible and rapid maxillary expansion and adequate continuous positive airway pressure therapy are possible effective therapies to delay the expansion of aortic diameter in patients with Marfan＇s syndrome.Conclusions Obstructive sleep apnea is strongly associated with Marfan＇s syndrome.Craniofacial abnormalities and lax upper airway are the main mechanisms.Untreated obstructive sleep apnea accelerates progression of aortic dissection and rupture.Effective therapies for obstructive sleep apnea could postpone the aortic dilatation in patients with Marfan＇s syndrome.
