[Onycho-osteo-dysplasia (in connection with two familial observations) (author's transl)].
The authors report on two familial observations of hereditary onycho-osteo-dysplasia and review the principal characteristics of this syndrome. Only one of the three reported cases presented the classical dysplastic tetrad. The other two suffered only from three associated anomalies (absence of elbow dysplasia). No renal involvement was observed. Dominant autosomal transmission was confirmed, in addition to a linkage with ABO blood groups. Finally, the authors emphasise the identity of phenotypic expression found in the cases studied.
D000017:ABO Blood-Group System / Q000235:genetics; D000328:Adult; D002675:Child, Preschool; D005260:Female; D005796:Genes; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010375:Pedigree
D000017:ABO Blood-Group System
L'onycho-ostéo-dysplasie (à propos de deux observations familiales).