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Ocular Manifestations of a Patient with Hay-Wells Syndrome 1Scherer M., 1Rieck P., 1Hartmann C., 2Tinschert S.,
Background: Hay-Wells syndrome, also known as AEC syndrome (ankyloblepharon-ectodermal dysplasia-clefting) is a rare form of ectodermal dysplasia which was first differentiated as unique disorder with an autosomal-dominant pattern of inheritance in 1976. This syndrome is characterised by scalp infections, alopecia, ankyloblepharon, oligodontia, hypohidrosis and cleft lip and/or palate. It has been recently demonstrated that heterozygous mutations in the p63 gene (chromosomal localisation: 3q27) are the major cause for this disease. Different mutations in the p63 gene are also responsible for other ectodermal dysplasia syndromes including the better known EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting). |
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