Biomaterial Database

[Onycho-osteo-dysplasia (in connection with two familial observations) (author's transl)]. 1978

G Rotteleur, and C Duez-Desmaret, and J P Farriaux, and G Fontaine

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.

UI	MeSH Term	Description	Entries
D008040	Genetic Linkage	The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.	Genetic Linkage Analysis,Linkage, Genetic,Analyses, Genetic Linkage,Analysis, Genetic Linkage,Genetic Linkage Analyses,Linkage Analyses, Genetic,Linkage Analysis, Genetic
D008297	Male		Males
D009261	Nail-Patella Syndrome	A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. It is a genetically determined autosomal dominant trait.	Osteo-Onychodysplasia, Hereditary,Osterreicher Syndrome,Pelvic Horn Syndrome,Turner-Kieser Syndrome,Fong Disease,Hereditary Onycho-Osteodysplasia,Hereditary Osteo-Onychodysplasias,Onychoosteodysplasia,Disease, Fong,Hereditary Osteo-Onychodysplasia,Nail Patella Syndrome,Osteo Onychodysplasia, Hereditary,Osteo-Onychodysplasias, Hereditary,Syndrome, Nail-Patella,Syndrome, Osterreicher,Syndrome, Pelvic Horn,Syndrome, Turner-Kieser,Turner Kieser Syndrome
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D005260	Female		Females
D005796	Genes	A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.	Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000017	ABO Blood-Group System	The major human blood type system which depends on the presence or absence of two antigens A and B. Type O occurs when neither A nor B is present and AB when both are present. A and B are genetic factors that determine the presence of enzymes for the synthesis of certain glycoproteins mainly in the red cell membrane.	ABH Blood Group,ABO Blood Group,ABO Factors,Blood Group H Type 1 Antigen,H Blood Group,H Blood Group System,ABO Blood Group System,Blood Group, ABH,Blood Group, ABO,Blood Group, H,Blood-Group System, ABO,Factors, ABO,System, ABO Blood-Group