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

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

31 Zitate (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.

Originalsprache	Englisch
Zeitschrift	American Journal of Medical Genetics
Jahrgang	65
Ausgabenummer	2
Seiten (von - bis)	109-112
Seitenumfang	4
ISSN	0148-7299
DOIs	https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N
Publikationsstatus	Veröffentlicht - 16.10.1996

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Querschnittsbereich: Medizinische Genetik

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

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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",

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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

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 -

Blepharo-Cheilo-Dontic (BCD) syndrome

Abstract

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