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  • Title: A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.
    Author: Freire-Maia N, Fortes VA, Pereira LC, Opitz JM, Marcalle FA, Cavalli IJ.
    Journal: J Med Genet; 1975 Sep; 12(3):308-10. PubMed ID: 1177286.
    Abstract:
    This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.
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