Blepharo-Cheilo-Dontic (BCD) syndrome

Robert J. Gorlin; Hans Zellweger; M. Waziri Curtis; Hans Rudolf Wiedemann; Mette Warburg; Franz Majewski; Gabriele Gillessen-Kaesbach; Birte Prahl-Andersen; Elaine Zackai

doi:10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N

Blepharo-Cheilo-Dontic (BCD) syndrome

Robert J. Gorlin^*, Hans Zellweger, M. Waziri Curtis, Hans Rudolf Wiedemann, Mette Warburg, Franz Majewski, Gabriele Gillessen-Kaesbach, Birte Prahl-Andersen, Elaine Zackai

^*Corresponding author for this work

Institute of Human Genetics

31 Citations (Scopus)

Abstract

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.

Original language	English
Journal	American Journal of Medical Genetics
Volume	65
Issue number	2
Pages (from-to)	109-112
Number of pages	4
ISSN	0148-7299
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N
Publication status	Published - 16.10.1996

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Research Areas and Centers

Research Area: Medical Genetics

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10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N

Cite this

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title = "Blepharo-Cheilo-Dontic (BCD) syndrome",

abstract = "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.",

author = "Gorlin, \{Robert J.\} and Hans Zellweger and Curtis, \{M. Waziri\} and Wiedemann, \{Hans Rudolf\} and Mette Warburg and Franz Majewski and Gabriele Gillessen-Kaesbach and Birte Prahl-Andersen and Elaine Zackai",

year = "1996",

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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.

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DO - 10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N

M3 - Journal articles

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AN - SCOPUS:0029907546

SN - 0148-7299

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EP - 112

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

IS - 2

ER -

Blepharo-Cheilo-Dontic (BCD) syndrome

Abstract

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