首页 | 本学科首页   官方微博 | 高级检索  
相似文献
 共查询到10条相似文献,搜索用时 109 毫秒
1.
Lacrimal-auricular-dental-digital (LADD) syndrome comprises multiple anomalies. It can be inherited as autosomal dominant with variable expressivity or can be sporadic in nature. The clinical features of LADD syndrome include variably, lacrimal system hypoplasia, ear anomalies (with or without hearing impairment), salivary system hypoplasia, epiblepharon, dry eyes, corneal limbal stem cells deficiency, hypodontia, microdontia, xerostomia, and clinodactyly. We would like to report a unique case series of LADD syndrome patients presenting with diffuse ophthalmoplegia and facial muscle dysfunction, which may be a distinct subset of LADD syndrome or a new syndrome itself. We believe this to be the first such report. We suggest careful examination of ocular movements in all newly diagnosed LADD syndrome patients.  相似文献   

2.
PURPOSE: The Axenfeld-Rieger syndrome (ARS) shows genetic and morphologic heterogeneity and is associated with glaucoma in 50% of the patients. METHODS: Ocular, dental, and systemic anomalies, maximum intraocular pressure (IOPmax), frequency of ARS or glaucoma in the family history (FH), and age at diagnosis (AAD) of 26 consecutively examined patients with ARS and glaucoma or elevated IOP were evaluated retrospectively. RESULTS: In 65.4% of the patients hypoplasia of the iris was found. Almost 50% of the patients had systemic anomalies, dental anomalies being the most frequent. Of 26 patients, 12 (46.2%) had an ARS in the FH; 57.7% of the patients had a FH of glaucoma with or without ARS. No significant differences in IOPmax and frequency of iris hypoplasia and glaucoma surgery were found when patients with and without ARS in their FH and patients with and without iris hypoplasia were compared. CONCLUSION: Patients with iris hypoplasia and patients with ARS and/or glaucoma in the FH do not show a worse glaucoma prognosis than patients without iris hypoplasia or without a FH of glaucoma or ARS. ARS was diagnosed within the 1st year of life in approximately half of the patients. Therefore, children of ARS patients should be screened as soon as possible to improve early diagnosis of ARS and glaucoma and to improve glaucoma prognosis. As the dental and facial anomalies may require treatment in the first dentition, patients with ARS should be referred to a dentist or orthodontist.  相似文献   

3.
· Background: To detect the associated anomalies in patients with Axenfeld-Rieger syndrome is clinically important, because early treatment for such anomalies is crucial to both visual and systemic development. This study was conducted to clarify the associated anomalies in the syndrome. · Methods: We evaluated 21 patients with Axenfeld-Rieger syndrome encountered at Nagoya City University Hospital over a 16-year period. Patients who presented with a prominent Schwalbe’s line accompanying the iris strands were diagnosed as having Axenfeld-Rieger syndrome. · Results: The series consisted of 9 males and 12 females, ranging in age from 1 month to 41 years, mean 15.4±12.7 (SD) years. The syndrome was bilateral in 17 cases and unilateral in 4 cases. Hypoplasia of the iris was observed in 10 eyes of 6 patients. The associated ocular anomalies included sclerocornea in 6 eyes of 3 patients, developmental glaucoma in 5 eyes of 3 patients, persistent pupillary membrane in 4 eyes of 2 patients, microphthalmos in 3 eyes of 2 patients, and typical iris coloboma in 1 eye. Of 10 eyes with hypoplasia of the iris, 5 exhibited glaucoma. The accompanying systemic anomalies included 9 cases of dental anomalies, 5 of facial anomalies, and 3 of Alagille syndrome. · Conclusions: All of the associated ocular and systemic anomalies appeared to arise from the maldevelopment of the neural crest cells. Patients with Axenfeld-Rieger syndrome should therefore be examined for the presence of anomalies in the tissues of neural crest origin. Patients with hypoplasia of the iris should be checked for glaucoma. Received: 20 August 1998 Revised version received: 30 November 1998 Accepted: 1 December 1998  相似文献   

4.
Optic nerve hypoplasia can be associated with other central nervous system malformations. When associated with absence of the septum pellucidum or thinning of the corpus callosum, it is termed septo-optic dysplasia. Considered to be a first trimester event, the embryologic timing and etiology of this syndrome still is not clearly defined. This report represents the first documented case of septo-optic dysplasia with associated hypoplasia of the olfactory tract. Optic nerve hypoplasia is attributed to an abnormal developmental process during gestation. Generally accepted to be due to a first trimester insult, the timing of this abnormality has been debated given its association with other central nervous system abnormalities. These central nervous system abnormalities often include cerebral hemispheric and hypothalmic-pituitary axis abnormalities. Specifically, the presence of optic nerve hypoplasia with absence of the septum pellucidum and thinning of the corpus callosum has been termed septo-optic dysplasia or de Morsier's syndrome. Septo-optic dysplasia in association with olfactory tract and bulb hypoplasia has not been reported previously.  相似文献   

5.
6.
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.  相似文献   

7.
8.
Ocular findings in CHARGE syndrome. Six case reports and a review   总被引:1,自引:0,他引:1  
R J Chestler  T D France 《Ophthalmology》1988,95(12):1613-1619
CHARGE syndrome is a group of nonrandomly occurring congenital anomalies which may present to the ophthalmologist, because coloboma is one of the major findings. In a series of 54 patients with ocular colobomata, 6 (11%) were found to meet the criteria for CHARGE syndrome. The mnemonic CHARGE stands for the major features of this syndrome: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or hearing loss. No specific etiology is known, but autosomal dominant, autosomal recessive, and X-linked recessive forms have been suggested by familial reports. The authors describe six patients with CHARGE syndrome, including the second reported case occurring in monozygotic twins. Other syndromes, chromosomal defects, and effects of teratogens may have similar clinical presentations. Though our prevalence may be skewed by our referral setting, the frequency of occurrence of this syndrome is certainly high enough that ophthalmologists should be familiar with it. Evaluation for associated defects should be carried out and referral for genetic evaluation undertaken when appropriate.  相似文献   

9.
10.
The eye in the CHARGE association.   总被引:3,自引:0,他引:3       下载免费PDF全文
CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.  相似文献   

设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号