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  • Title: Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.
    Author: Silengo M, Lerone M, Romeo G, Calcagno E, Martucciello G, Jasonni V.
    Journal: Am J Med Genet; 1993 Nov 01; 47(6):931-3. PubMed ID: 8279493.
    Abstract:
    A new ectodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342-347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further clinical findings to expand the spectrum of this rare syndrome.
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