1996/10/16 by Robert J. Gorlin, H Zellweger, Hans Zellweger +12 · 1 citation
Biochemistry, Genetics and Molecular Biology · Dentistry · Health Professions · #Oral Health Pathology and Treatment #Oral and gingival health research #dental development and anomalies
paper · doi:10.1002/(sici)1096-8628(19961016)65:2<109::aid-ajmg5>3.0.co;2-n
openalex publication_date 1996/10/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/25
Patients with the autosomal dominant ble-pharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym "Elschnig syndrome" (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martínez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genée-Wiedemann syndrome), and a syndrome reported briefly by Warburg.