TY - JOUR
T1 - Blepharo-Cheilo-Dontic (BCD) syndrome
AU - Gorlin, Robert J.
AU - Zellweger, Hans
AU - Curtis, M. Waziri
AU - Wiedemann, Hans Rudolf
AU - Warburg, Mette
AU - Majewski, Franz
AU - Gillessen-Kaesbach, Gabriele
AU - Prahl-Andersen, Birte
AU - Zackai, Elaine
PY - 1996/10/16
Y1 - 1996/10/16
N2 - Patients with the autosomal dominant blepharo-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 Martinez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genee-Wiedemann syndrome), and a syndrome reported briefly by Warburg.
AB - Patients with the autosomal dominant blepharo-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 Martinez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genee-Wiedemann syndrome), and a syndrome reported briefly by Warburg.
UR - http://www.scopus.com/inward/record.url?scp=0029907546&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N
DO - 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N
M3 - Journal articles
C2 - 8911600
AN - SCOPUS:0029907546
SN - 0148-7299
VL - 65
SP - 109
EP - 112
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 2
ER -
