title: Uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly: report of a new patient with additional findings.
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.
authors.affiliation: Ambulatorio di Genetica Medica, Istituto G. Gaslini, Genova, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Silengo
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: E
authors.initials: E
authors.lastname: Calcagno
authors.forename: G
authors.initials: G
authors.lastname: Martucciello
authors.forename: V
authors.initials: V
authors.lastname: Jasonni
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005385:Fingers / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities* / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D008855:Microscopy, Electron, Scanning; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014096:Tooth, Supernumerary / Q000235:genetics*