Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome.
Open Access
- 1 September 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (9) , 586-589
- https://doi.org/10.1136/jmg.26.9.586
Abstract
We report here a father and daughter with digital abnormalities, nasolacrimal duct obstruction, and variable alopecia. The father had a cleft lip and palate and the daughter had choanal atresia. We propose they both have the EEC syndrome and show the variable expressivity of this disorder. Choanal atresia has not been previously reported in this condition.Keywords
This publication has 10 references indexed in Scilit:
- EEC SYNDROME SINE SINE - REPORT OF A FAMILY WITH OLIGOSYMPTOMATIC EEC SYNDROME1988
- Association of syndactyly, ectodermal dysplasia, and cleft lip and palate: report of two sibs from Turkey.Journal of Medical Genetics, 1988
- Variable expression in ankyloblepharon–ectodermal defects–cleft lip and palate syndromeAmerican Journal of Medical Genetics, 1987
- Urinary Tract Involvement in EEC SyndromeArchives of Pediatrics & Adolescent Medicine, 1985
- EEC syndrome without ectrodactyly? Report of 8 casesClinical Genetics, 1985
- Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome.Journal of Medical Genetics, 1983
- Ectrodactyly, cleft lip and palate in two half sibs.Journal of Medical Genetics, 1981
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression.Journal of Medical Genetics, 1976
- Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibsClinical Genetics, 1976
- Association of Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-PalateAmerican Journal of Diseases of Children, 1970