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Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Verloes, Alain; Bonneau, D.; Guidi, O. et al.
1993In Journal of Medical Genetics, 30 (2), p. 158-61
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Abstract :
[en] Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. Radiological findings include hypo/aplasia or fusion of the distal phalanges of the fifth finger and toe, brachymesophalangism V, and nail dysplasia or aplasia. One child had cystic adenomatoid disease of the lung. The pattern of anomalies presented by these children closely resembles a syndrome incompletely delineated in 1971 by Senior in six children, which has often been considered to be a mild form of Coffin-Siris syndrome. We suggest that this is an independent entity (BOD syndrome). The aetiology is still unknown. Differential diagnosis and nosological difficulties are discussed.
Disciplines :
Genetics & genetic processes
Author, co-author :
Verloes, Alain ;  Université de Liège - ULiège > Génétique générale et humaine
Bonneau, D.
Guidi, O.
Berthier, M.
Oriot, D.
Van Maldergem, Lionel ;  Centre Hospitalier Universitaire de Liège - CHU > Génétique
Koulischer, Lucien ;  Université de Liège - ULiège > Relations académiques et scientifiques (Médecine)
Language :
English
Title :
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Publication date :
February 1993
Journal title :
Journal of Medical Genetics
ISSN :
0022-2593
eISSN :
1468-6244
Publisher :
BMJ Publishing Group, United Kingdom
Volume :
30
Issue :
2
Pages :
158-61
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 07 February 2011

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