Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome?
作者信息
Chan A K, Levin A V, Teebi A S
出版信息
Clin Dysmorphol. 2000 Jul;9(3):223-6. doi: 10.1097/00019605-200009030-00014.
Abstract
A possible new case of Temtamy syndrome is described in a male child. Clinical features of the present case and those described by Temtamy are discussed.
摘要
相似文献
1
Craniofacial dysmorphism, agenesis of the corpus callosum and ocular colobomas: Temtamy syndrome?
Clin Dysmorphol. 2000 Jul;9(3):223-6. doi: 10.1097/00019605-200009030-00014.
2
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.胼胝体发育不全、视神经缺损、难治性癫痫、颅面及骨骼畸形：一种类似于坦塔米综合征的常染色体隐性疾病。
Am J Med Genet A. 2007 Aug 15;143A(16):1900-5. doi: 10.1002/ajmg.a.31855.
3
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.胼胝体和眼部异常的坦塔米综合征的进一步描述。
Am J Med Genet A. 2018 Mar;176(3):715-721. doi: 10.1002/ajmg.a.38615. Epub 2018 Jan 31.
4
Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations.正中面部裂综合征中的胼胝体发育不全及相关眼部畸形
Am J Ophthalmol. 1973 Aug;76(2):241-5. doi: 10.1016/0002-9394(73)90168-2.
5
Aicardi's syndrome. A clinicopathologic study.艾卡里迪综合征。一项临床病理研究。
Arch Ophthalmol. 1984 Feb;102(2):250-3. doi: 10.1001/archopht.1984.01040030200026.
6
[Ocular manifestations in Temtamy syndrome: A case report].[坦塔米综合征的眼部表现：一例报告]
J Fr Ophtalmol. 2022 Dec;45(10):e433-e435. doi: 10.1016/j.jfo.2022.05.009. Epub 2022 Aug 2.
7
[Aicardi syndrome: a case report].[艾卡迪综合征：一例病例报告]
Gaoxiong Yi Xue Ke Xue Za Zhi. 1992 Dec;8(12):692-6.
8
[The Aicardi syndrome].
An Esp Pediatr. 1982 Apr;16(4):358-64.
9
The incidence, embryology, and oculofacial abnormalities associated with eyelid colobomas.与眼睑缺损相关的发病率、胚胎学及眼面部异常。
Eye (Lond). 2015 Apr;29(4):492-8. doi: 10.1038/eye.2014.335. Epub 2015 Jan 23.
10
Congenital cystic eye with multiple ocular and intracranial anomalies.伴有多种眼部和颅内异常的先天性囊性眼
Arch Ophthalmol. 1991 Jul;109(7):985-7. doi: 10.1001/archopht.1991.01080070097044.
Zotero 插件