BLEPHAROPHIMOSIS, PTOSIS, EPICANTHUS INVERSUS, TELECANTHUS, AMBLYOPIA, AND MENSTRUAL ABNORMALITY IN SISTERS

被引:0
|
作者
AMANO, T
SHIBUYA, Y
HAYASAKA, S
机构
关键词
AMBLYOPIA; BLEPHAROPHIMOSIS; MENSTRUAL ABNORMALITY;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.
引用
收藏
页码:172 / 176
页数:5
相关论文
共 50 条
  • [41] Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
    Shah, Bhavin M.
    Dada, Tanuj
    Panda, Anita
    Tanwar, Mukesh
    Bhartiya, Shibal
    Dada, Rima
    INDIAN JOURNAL OF OPHTHALMOLOGY, 2014, 62 (03) : 358 - 360
  • [42] A New Method of Medial Epicanthoplasty for Patients with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
    Sa, Ho-Seok
    Lee, Jung Hye
    Woo, Kyung In
    Kim, Yoon-Duck
    OPHTHALMOLOGY, 2012, 119 (11) : 2402 - 2407
  • [43] Clinical, Radiologic, and Genetic Features in Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome in the Indian Population
    Chawla, Bhavna
    Bhadange, Yogesh
    Dada, Rima
    Kumar, Manoj
    Sharma, Sanjay
    Bajaj, Mandeep S.
    Pushker, Neelam
    Chandra, Mahesh
    Ghose, Supriyo
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (04) : 2985 - 2990
  • [44] FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
    Lin, Wei-De
    Chou, I-Ching
    Lee, Ni-Chung
    Wang, Chung-Hsing
    Hwu, Wuh-Liang
    Lin, Shuan-Pei
    Chao, Mei-Chyn
    Tsai, Yushin
    Tsai, Fuu-Jen
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2010, 48 (04) : 485 - 488
  • [45] High resolution mapping of the Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome (BPES) locus.
    Loi, A
    Pilia, G
    Crisponi, L
    Delana, M
    Gasparini, P
    Bisceglia, L
    Amati, P
    Bonneau, D
    Rocchi, M
    MacMillan, S
    Ma, P
    Chen, E
    Schlessinger, D
    Cao, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A261 - A261
  • [46] FOXL2 gene deletions in patients with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES)
    Yellore, VS
    Udar, N
    Chalukya, M
    Yelchits, S
    Silva-Garcia, R
    Small, K
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 531 - 531
  • [47] FOXL2 mutations in Tunisian patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Kraoua, L.
    Chaabouni, M.
    Trabelsi, M.
    Chelly, I.
    Maazoul, F.
    Ben Abdallah, N.
    Boukthir, S.
    Barsaoui, S.
    Chaabouni, H.
    M'rad, R.
    CLINICAL GENETICS, 2010, 77 (06) : 601 - 603
  • [48] FOXL2 mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome
    Wang, Juan
    Liu, Jinling
    Zhang, Qingjiong
    MOLECULAR VISION, 2007, 13 (10-14): : 108 - 113
  • [49] FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome
    Jeyabalan Nallathambi
    Guruswamy Neethirajan
    Kim Usha
    Jethani Jitendra
    Elfride De Baere
    Periasamy Sundaresan
    Journal of Genetics, 2007, 86 : 165 - 168
  • [50] A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci
    Piemontese, MR
    Memeo, E
    Carella, M
    Amati, P
    Chomel, JC
    Bonneau, D
    Pilia, G
    Cao, A
    Drabkin, H
    Gemmill, R
    Rommens, J
    Zelante, L
    Gasparini, P
    Bisceglia, L
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1997, 5 (03) : 171 - 174