메뉴 건너뛰기




Volumn 75, Issue 1, 1998, Pages 52-54

Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities

Author keywords

Blepharophimosis; Blepharophimosis syndrome; Developmental delay; Mental retardation

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CHROMOSOME 4; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; HUMAN; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; RING CHROMOSOME; SYNDROME DELINEATION;

EID: 0031984609     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<52::AID-AJMG11>3.0.CO;2-R     Document Type: Article
Times cited : (26)

References (18)
  • 2
    • 0026018854 scopus 로고
    • The Ohdo blepharophimosis syndrome: A third case
    • Biesecker LG (1991): The Ohdo blepharophimosis syndrome: A third case. J Med Genet 28:131-134.
    • (1991) J Med Genet , vol.28 , pp. 131-134
    • Biesecker, L.G.1
  • 4
    • 0028231440 scopus 로고
    • Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth
    • Clayton-Smith J, Krajewska-Walasek MK, Fryer A, Donnai D (1994): Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. Clin Dysmorphol 3:15-20.
    • (1994) Clin Dysmorphol , vol.3 , pp. 15-20
    • Clayton-Smith, J.1    Krajewska-Walasek, M.K.2    Fryer, A.3    Donnai, D.4
  • 5
    • 85005027702 scopus 로고
    • Familial low birth weight dwarfism with an unusual facies and a skin eruption
    • Dubowitz V (1965): Familial low birth weight dwarfism with an unusual facies and a skin eruption. J Med Genet 2:12-17.
    • (1965) J Med Genet , vol.2 , pp. 12-17
    • Dubowitz, V.1
  • 6
    • 0023790695 scopus 로고
    • An association among blepharophimosis, resistant ovary syndrome, and true premature menopause
    • Fraser IS, Shearman RP, Smith A, Russell P (1988): An association among blepharophimosis, resistant ovary syndrome, and true premature menopause. Fertil Steril 50:747-751.
    • (1988) Fertil Steril , vol.50 , pp. 747-751
    • Fraser, I.S.1    Shearman, R.P.2    Smith, A.3    Russell, P.4
  • 7
    • 84906418771 scopus 로고
    • Craniocarpotarsal dystrophy: An undescribed congenital malformation
    • Freeman EA, Sheldon JH (1938): Craniocarpotarsal dystrophy: An undescribed congenital malformation. Arch Dis Child 13:277-283.
    • (1938) Arch Dis Child , vol.13 , pp. 277-283
    • Freeman, E.A.1    Sheldon, J.H.2
  • 8
    • 0029091076 scopus 로고
    • Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
    • Harrar HS, Jeffery S, Patton MA (1995): Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet 32:774-777.
    • (1995) J Med Genet , vol.32 , pp. 774-777
    • Harrar, H.S.1    Jeffery, S.2    Patton, M.A.3
  • 9
    • 0027485381 scopus 로고
    • Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
    • Jewett T, Rao PN, Weaver RG, Stewart W, Thomas IT, Pettenati MJ (1993): Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23. Am J Med Genet 47:1147-1150.
    • (1993) Am J Med Genet , vol.47 , pp. 1147-1150
    • Jewett, T.1    Rao, P.N.2    Weaver, R.G.3    Stewart, W.4    Thomas, I.T.5    Pettenati, M.J.6
  • 10
    • 0029034110 scopus 로고
    • Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosome anomalies
    • Lawson CT, Toomes C, Fryer A, Carette MJ, Taylor GM, Fukushima Y, Dixon MJ (1995): Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosome anomalies. Hum Mol Genet 4:963-967.
    • (1995) Hum Mol Genet , vol.4 , pp. 963-967
    • Lawson, C.T.1    Toomes, C.2    Fryer, A.3    Carette, M.J.4    Taylor, G.M.5    Fukushima, Y.6    Dixon, M.J.7
  • 11
    • 0013951887 scopus 로고
    • A new generalized connective tissue syndrome
    • Marden PM, Walker WA (1966): A new generalized connective tissue syndrome. Am J Dis Child 112:225-228.
    • (1966) Am J Dis Child , vol.112 , pp. 225-228
    • Marden, P.M.1    Walker, W.A.2
  • 12
    • 0028327604 scopus 로고
    • Blepharophimosis, ptosis and mental retardation: Further delineation of Ohdo syndrome
    • Melnyk AR (1994): Blepharophimosis, ptosis and mental retardation: Further delineation of Ohdo syndrome. Clin Dysmorphol 3:121-124.
    • (1994) Clin Dysmorphol , vol.3 , pp. 121-124
    • Melnyk, A.R.1
  • 13
    • 0022447212 scopus 로고
    • Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
    • Ohdo S, Madakoro H, Sonoda T, Hayakawa K (1986): Mental retardation associated with congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth. J Med Genet 23:242-244.
    • (1986) J Med Genet , vol.23 , pp. 242-244
    • Ohdo, S.1    Madakoro, H.2    Sonoda, T.3    Hayakawa, K.4
  • 14
    • 0023390252 scopus 로고
    • Mental retardation with blepharophimosis
    • Say B, Barber N (1987): Mental retardation with blepharophimosis. J Med Genet 24:511.
    • (1987) J Med Genet , vol.24 , pp. 511
    • Say, B.1    Barber, N.2
  • 15
    • 33749732158 scopus 로고
    • Über ein neues kombinationsbild multipler abartungen
    • Schönenberg H (1954): Über ein neues kombinationsbild multipler abartungen. Ann Paediatr 182:229-240.
    • (1954) Ann Paediatr , vol.182 , pp. 229-240
    • Schönenberg, H.1
  • 16
    • 13344257514 scopus 로고
    • Congenital blepharophimosis associated with a unique generalized myopathy
    • Schwartz O, Jampel RS (1962): Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol 68:52-57.
    • (1962) Arch Ophthalmol , vol.68 , pp. 52-57
    • Schwartz, O.1    Jampel, R.S.2
  • 18
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
    • Zlotogora J, Sagi M, Cohen T (1983): The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types. Am J Hum Genet 35:1020-1027.
    • (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.