SINDROME DE RUBINSTEIN TAYBI PDF

Presentation[ edit ] Facial features A , left hand and feet showing broad thumb and big toes B, C and X-ray of both hands showing short broad thumbs D. Any situations requiring the administration of anesthesia or succinylcholine e. They recommended close individual evaluation of Rubinstein—Taybi patients for anaesthetic plans. Genetics[ edit ] Rubinstein—Taybi syndrome is inherited in an autosomal dominant fashion. Rubinstein—Taybi syndrome is a microdeletion syndrome involving chromosomal segment 16p

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This article has been cited by other articles in PMC. RESULTS—Most frequently reported eye anomalies in the literature were lacrimal duct obstruction, corneal abnormalities, congenital glaucoma, congenital cataract, and colobomata. Abnormalities of almost any eye segment have been published in case reports.

With age, retinal as well as electrophysiological abnormalities occur more frequently. In four patients no signs of retinal dysfunction were observed, indicating phenotypic heterogeneity. Further cytogenetic and molecular examination of the patients is needed before it becomes clear if this also represents genetic heterogeneity. Because of the high frequency of ocular abnormalities, visual function tests and electrophysiological investigations should be performed in every RTs patient at regular intervals.

Selected References These references are in PubMed. This may not be the complete list of references from this article. Paroxysmal supraventricular tachycardia in infancy. Report of a case treated with methacholine. Am J Dis Child. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Suppl. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p Am J Hum Genet.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Submicroscopic deletion of chromosome 16p Am J Med Genet. Glaucoma and findings simulating glaucoma in the Rubinstein-Taybi syndrome. J Pediatr Ophthalmol Strabismus. Duane retraction syndrome associated with Rubinstein-Taybi syndrome.

Ophthalmic Genet. Coloboma associated with Rubinstein-Taybi syndrome. Congenital glaucoma associated with Rubinstein-Taybi syndrome. Acta Ophthalmol Scand. Bibliography on Rubinstein-Taybi syndrome. Deletion at chromosome 16p Broad thumb-hallux Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome: a natural history study.

Visual acuity norms in young children. Surv Ophthalmol. Das Rubinstein-Taybi-Syndrom. Kliniche und pneumencephalographische Befunde.

Z Kinderheilkd. Ocular manifestations of the Rubinstein-Taybi syndrome. Case report and review of the literature. Arch Ophthalmol. Augensymptome beim Rubinstein-Taybi-Syndrome. Klin Monbl Augenheilkd. Arch Neurobiol Madr Sep-Oct;35 5 — The Rubinstein-Taybi syndrome. Report of 7 cases. Clin Genet. Broad thumbs and broad great toes with facial abnormalities and mental retardation. J Pediatr. Caracteristiques neuro-ophtalmologiques du syndrome des "pouces larges" de Rubinstein-Taybi.

Rev Otoneuroophtalmol. A propos de deux nouvelles observations. Arch Ophtalmol Rev Gen Ophtalmol. Rubinstein-Taybi syndrome. Indian Pediatr. Syndrome de Rubinstein-Taybi. Dtsch Med Wochenschr. Rev Chil Pediatr. Arch Dis Child. J Fr Ophtalmol. Indian J Pediatr. Mental retardation with facial abnormalities, broad thumbs and toes and unusual dermatoglyphics. Dev Med Child Neurol. Bull Soc Ophtalmol Fr. Keratoglobus in the Rubinstein-Taybi syndrome. Br J Ophthalmol. A propos de deux observations.

Acta Paediatr Belg. Monozygotic twins discordant for rubinstein-taybi syndrome. J Med Genet. Monatsschr Kinderheilkd. The first case in an African child and the first case recognized at birth. Clin Pediatr Phila Aug;7 8 — Deux cas de nanisme constitutionnel syndrome de Rubinstein et Taybi avec glaucome. Rubinstein-Taybi-Syndrom bei wahrscheinlich eineiigen Zwillingen und drei weiteren Kindern.

Gleichzeitige Korrektur einer Fehldiagnose. Klin Padiatr. Juvenile glaucoma in the Rubinstein-Taybi syndrome. J Pediatr Ophthalmol. Ann Ocul Paris Sep; 9 — Sindrome di Rubinstein-Taybi. Descrizione di 2 casi. Acta Neurol Quad Napoli ;— Rubinstein-Taybi-Syndrom und juveniles Glaukom. Rubinstein Taybi syndrome. Case report. Due casi di sindrome di Rubinstein-Taybi. Minerva Pediatr. Broad thumbs and great toes syndrome. J Fla Med Assoc.

Pediatr Pol. A case of the Rubinstein-Taybi syndrome. Acta Ophthalmol Copenh ;47 1 — Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Rubinstein-Taybi syndrome in The Netherlands. Computed tomography of ocular colobomas. Rubinstein-Taybin syndrooma. Su un caso di sindrome di Rubinstein e Taybi.

Osservazioni su un caso di sindrome di Rubinstein-Taybi. Clin Pediatr Bologna Dec;52 12 — Broad thumbs and toes and mental retardation.

Unusual dermatoglyphic observations in two individuals.

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