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  • Title: Further delineation of the odonto-onycho-dermal dysplasia syndrome.
    Author: Mégarbané H, Haddad M, Delague V, Renoux J, Boehm N, Mégarbané A.
    Journal: Am J Med Genet A; 2004 Aug 30; 129A(2):193-7. PubMed ID: 15316967.
    Abstract:
    We report on three boys, two brothers and their maternal cousin, presenting with dry hair, pilar keratosis, severe hypodontia, smooth tongue, onychodysplasia, and keratoderma and hyperhidrosis of palms and soles. Histology of the skin showed orthokeratotic, hyperkeratosis, hypergranulosis, and mild acanthosis in the epidermis. Scanning electron microscopic examination of the hair showed longitudinal depressions in some hair. These features are close to a rare entity: the odonto-onycho-dermal dysplasia but with some differing features.
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