Blepharophimosis-ptosis-epicanthus inversus syndrome and infertility;Le syndrome du blepharophimosis-ptosis-epicanthus inversus associe a une sterilite

Journal de Gynecologie Obstetrique et Biologie de la Reproduction

Volumn 28, Issue 8, 1999, Pages 833-837

  Morales, M ^a   Chardonnens, D ^a   Bottani, A ^a   Gersbach Forrer, M ^a   Campana, A ^a  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Amenorrhea; Blepharophimosis; BPES; Hypergonadotropic hypogonadism; Infertility

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEPHAROPHIMOSIS; DISEASE ASSOCIATION; EPICANTHUS; FEMALE; GENETIC DISORDER; HUMAN; HYPERGONADOTROPIC HYPOGONADISM; INFERTILITY; MALE; MENSTRUAL IRREGULARITY; PEDIGREE; PTOSIS; SYNDROME; ADULT; CASE REPORT; CONGENITAL MALFORMATION; EYELID DISEASE; FEMALE INFERTILITY; GENETICS; NOSE;

ADULT; BLEPHAROPHIMOSIS; EYELID DISEASES; FEMALE; HUMANS; INFERTILITY, FEMALE; NOSE; PEDIGREE; SYNDROME;

EID: 0033396601     PISSN: 03682315     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (17)

1. Vignes NI. Epicanthus héréditaire. Rev Gen Ophtal 1889 ; 8 : 438.
2. Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983; 35: 1020-7.
3. Harrar HS, Jeffery S, Patton MA. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet 1995; 32: 774-7.
4. Amati P, Gasparini P, Zlotora J, Zelante, Chomel J-C, Kitzis A et al. A gene for premature ovarian faillure associated with eyelid malformation maps 3q22-q23. Am J Hum Genet 1996; 58: 1089-92.
5. Lawson CT, Toomes C, Fryer A, Carette MJM, Taylor GM, Fukushima Y et al. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Hum Mol Genet 1995; 4: 963-7.
6. Maw M, Kar B, Biswas J, Bisws P, Nancarrow D, Bridges R, Kumaramanickavel G, Denton M, Badrinath SS. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet 1996; 5: 2049-54.
7. Fraser IS, Shearman RP, Smith A, Russell P. An association between blepharophimosis, resistant ovary syndrome and true premature menopause. Fertil Steril 1988; 50: 747-51.
8. Smith A, Fraser IS, Shearman RP, Russell P. Blepharophimosis plus ovarian failure: a likely candidate for contiguous gene syndrome. J Med Genet 1989; 26: 434-8.
9. Jones GS, DeMoraes-Ruehsen M. A new syndrome of amenorrhea in association with hypergonadotropism and apparently normal ovarian follicular apparatus. Am J Obstet Gynecol 1969; 104: 597.
10. Coulam CB, Adamson SC, Annegers JF. Incidence of premature ovarian failure. Obstet Gynecol 1986; 67: 604-6.
11. Conway GS, Kaltsas G, Patel A, Davies MC, Jacobs HS. Characterization of idiopathic premature ovarian failure. Fertil Steril 1996; 65: 337-41.
12. Nicolino M, Bost M, David M, Chaussain JL. Familial blephamophimosis: an uncommon marker of ovarian dysgenesis. J Pediatr Endocrinol Metab 1995; 8: 127-33.
13. Panidis D, Rousso D, Vavilis D, Skiadopoulos S, Kalogeropoulos A. Familial blepharophimosis with ovarian dysfunction. Hum Reprod 1994; 9: 2034-7.
14. Rebar RW, Connolly HV. Idiopathic premature ovarian failure: Clinical and endocrine characteristics. Fertil Steril 1982; 37: 35-41.
15. Kreiner D, Droesch K, Navot D, Scott R, Rosenwaks Z. Spontaneous and pharmacologically induced remissions in patients with premature ovarian failure. Obstet Gynecol 1988; 73: 926-8.
16. Sauer MV, Paulson RJ. Oocyte and embryo donation. Curr Opin Obstet Gynecol 1995; 7: 193-8.
17. Vassalli A, Matzuk MM, Gardner HA, Lee KF, Jaenisch R. Activin/inhibin beta B subunit gene disruption leads to defects in eyelid development and female reproduction. Genes Dev 1994; 8: 414-27.