BIOMAT Database Logo BIOMAT Database Logo

Rubinstein-Taybi syndrome. Report of two cases. 1988

G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico

UI MeSH Term Description Entries
D008297 Male Males
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
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000015 Abnormalities, Multiple Congenital abnormalities that affect more than one organ or body structure. Multiple Abnormalities
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012415 Rubinstein-Taybi Syndrome A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). Broad Thumb-Hallux Syndrome,Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation,Rubinstein Syndrome,Broad Thumb Hallux Syndrome,Broad Thumb-Hallux Syndromes,Rubinstein Taybi Syndrome,Syndrome, Broad Thumb-Hallux,Syndrome, Rubinstein,Syndrome, Rubinstein-Taybi,Syndromes, Broad Thumb-Hallux

Related Publications

G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
The Rubinstein-Taybi syndrome: a report of two cases.
February 1968, Archives of disease in childhood,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
[Rubinstein Taybi syndrome. Report of two cases (author's transl)].
January 1973, Acta paediatrica Belgica,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
[Rubinstein-Taybi syndrome. Report of 2 cases].
December 1975, Arquivos de neuro-psiquiatria,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
The Rubinstein-Taybi syndrome. Report of 7 cases.
January 1972, Clinical genetics,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
The Rubinstein-Taybi syndrome. Report of five cases.
February 1971, Rhode Island medical journal,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
[Rubinstein-Taybi syndrome--a report of three cases].
December 1989, Yan ke xue bao = Eye science,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
[Rubinstein-Taybi syndrome--case report].
January 1996, Klinika oczna,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
Rubinstein-Taybi syndrome: case report.
June 1989, Pediatric dentistry,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
Rubinstein Taybi syndrome. Case report.
December 1970, Indian pediatrics,
G Ciacci, and I D'Amore, and G Fabrizi, and R Rocchi, and N Volpi, and A Federico
[Three cases of Rubinstein-Taybi syndrome].
October 1989, Odontostomatologike proodos,
Copied contents to your clipboard!