[2 cases of Rubinstein-Taybi syndrome]. 1977

A Scherini, and M Vegni

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D011379 Prognosis A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations. Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
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
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

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