EEM syndrome: Report of a family and results of a ten-year follow-up

Ophthalmic Genetics

Volumn 20, Issue 2, 1999, Pages 95-99

  Silva, Valdir Balarin ^a   Simões, Andréa Mara ^a,b   Marques de Faria, Antonia Paula ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b FACULDADE DE CIÊNCIAS MÉDICAS DA SANTA CASA DE SÃO PAULO   (Brazil)

Author keywords

Autosomal recessive inheritance; Central and pericentral retinitis pigmentosa; Ectodermal dysplasias; Hypotrichosis; Macular dystrophy; Syndactyly

Indexed keywords

ADULT; ARTICLE; BRAZIL; CASE REPORT; ECTODERMAL DYSPLASIA; FAMILY STUDY; FOLLOW UP; HUMAN; HYPOTRICHOSIS; MALE; PRIORITY JOURNAL; RETINA DEGENERATION; RETINITIS PIGMENTOSA; SYNDACTYLY; TOOTH DISEASE;

ADULT; ECTODERMAL DYSPLASIA; FLUORESCEIN ANGIOGRAPHY; FOLLOW-UP STUDIES; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPOTRICHOSIS; MACULAR DEGENERATION; MALE; PEDIGREE; RETINA; SYNDROME; TOOTH ABNORMALITIES;

EID: 0032781231     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Ohdo S, Hirayama K, Terawaki T. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: the EEM syndrome. J Med Genet 1983;20:52-57.
2. Albrectsen B, Swendsen IB. Hypotrichosis, syndactyly and retinal degeneration in two siblings. Acta Derm-Venereol 1956:36:96-101.
3. Buyse ML. Birth Defects Encyclopedia. Blackwell Scientific Publications, 1990.
4. McKusick VA. Mendelian Inheritance in Man. The Johns Hopkins University-Sinai Medical Center, UCLA, June 1996.
5. Hayakawa M, Yanahima K, Kato K, et al. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). Ophthalmic Paediatr Genet 1989;10(4):287-292.