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: M Silengo, M Lerone, G Romeo, E Calcagno, G Martucciello, V Jasonni
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 6 Pg. 931-3 (Nov 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8279493 (Publication Type: Case Reports, Journal Article)

Topics

• Bone and Bones (abnormalities)
• Cataract (genetics)
• Child
• Child, Preschool
• Fingers (abnormalities)
• Hair (abnormalities, pathology, ultrastructure)
• Humans
• Hypotrichosis (genetics, pathology)
• Male
• Metacarpus (abnormalities)
• Microscopy, Electron, Scanning
• Retina (abnormalities, pathology)
• Syndrome
• Toes (abnormalities)
• Tooth, Supernumerary (genetics)