Rubinstein-Taybi syndrome: cranial MR imaging findings. 1995

R N Sener
Department of Radiology, Ege University Hospital, Bornova, Izmir, Turkey.

Rubinstein-Taybi syndrome is a syndrome of mental retardation associated with broad thumbs and big toes. The patients have a characteristic flat face with a beaked nose. This paper deals with brain changes in a patient with this syndrome, studied by MR imaging, which mainly consist of bilateral rolandic cortical clefts and diminished white matter, which probably account for mental retardation.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D008297 Male Males
D008607 Intellectual Disability Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D010296 Parietal Lobe Upper central part of the cerebral hemisphere. It is located posterior to central sulcus, anterior to the OCCIPITAL LOBE, and superior to the TEMPORAL LOBES. Brodmann Area 39,Brodmann Area 40,Brodmann Area 5,Brodmann Area 7,Brodmann's Area 39,Brodmann's Area 40,Brodmann's Area 5,Brodmann's Area 7,Inferior Parietal Cortex,Secondary Sensorimotor Cortex,Superior Parietal Lobule,Angular Gyrus,Gyrus Angularis,Gyrus Supramarginalis,Intraparietal Sulcus,Marginal Sulcus,Parietal Cortex,Parietal Lobule,Parietal Region,Posterior Paracentral Lobule,Posterior Parietal Cortex,Praecuneus,Precuneus,Precuneus Cortex,Prelunate Gyrus,Supramarginal Gyrus,Area 39, Brodmann,Area 39, Brodmann's,Area 40, Brodmann,Area 40, Brodmann's,Area 5, Brodmann,Area 5, Brodmann's,Area 7, Brodmann,Area 7, Brodmann's,Brodmanns Area 39,Brodmanns Area 40,Brodmanns Area 5,Brodmanns Area 7,Cortex, Inferior Parietal,Cortex, Parietal,Cortex, Posterior Parietal,Cortex, Precuneus,Cortex, Secondary Sensorimotor,Cortices, Inferior Parietal,Gyrus, Angular,Gyrus, Prelunate,Gyrus, Supramarginal,Inferior Parietal Cortices,Lobe, Parietal,Lobule, Parietal,Lobule, Posterior Paracentral,Lobule, Superior Parietal,Paracentral Lobule, Posterior,Paracentral Lobules, Posterior,Parietal Cortex, Inferior,Parietal Cortex, Posterior,Parietal Cortices,Parietal Cortices, Inferior,Parietal Cortices, Posterior,Parietal Lobes,Parietal Lobule, Superior,Parietal Lobules,Parietal Lobules, Superior,Parietal Regions,Posterior Paracentral Lobules,Posterior Parietal Cortices,Precuneus Cortices,Region, Parietal,Secondary Sensorimotor Cortices,Sensorimotor Cortex, Secondary,Superior Parietal Lobules
D001921 Brain The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM. Encephalon
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005625 Frontal Lobe The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus. Brodmann Area 8,Brodmann's Area 8,Frontal Cortex,Frontal Eye Fields,Lobus Frontalis,Supplementary Eye Field,Area 8, Brodmann,Area 8, Brodmann's,Brodmanns Area 8,Cortex, Frontal,Eye Field, Frontal,Eye Field, Supplementary,Eye Fields, Frontal,Frontal Cortices,Frontal Eye Field,Frontal Lobes,Lobe, Frontal,Supplementary Eye Fields
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
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
D019066 Facies The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)

Related Publications

R N Sener
June 1979, Journal of mental deficiency research,
R N Sener
August 2023, Italian journal of dermatology and venereology,
R N Sener
March 1973, Rhode Island medical journal,
R N Sener
January 1983, Nursing times,
R N Sener
July 1994, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie,
R N Sener
December 1968, JAMA,
R N Sener
April 1990, Indian pediatrics,
R N Sener
January 1985, Chirurgia narzadow ruchu i ortopedia polska,
R N Sener
January 1974, Minerva pediatrica,
R N Sener
January 1977, Nihon rinsho. Japanese journal of clinical medicine,
Copied contents to your clipboard!