A roentgencephalometric study to compare the facial morphology of 18 individuals affected with Rubinstein-Taybi syndrome and 25 of their parents was performed. The main findings in the affected individuals were shortening of facial height and depth, cranial base length, a marked decrease in size of the mandible, and a steep cranial base. A change with age was found for some dimensions. The pattern variability indices were high, indicating an abnormal craniofacial profile. The correlations between most patients were high, although this was less expressed for the younger patients. The parents had a normal pattern profile and pattern profile variability indices. The correlation between parents and their affected children was low. This study suggests that pattern profile analysis of cephalometric measurements may be a useful diagnostic tool in Rubinstein-Taybi syndrome. However, comparable studies of large groups of patients, especially of a younger age, are needed for further ascertainment of normal values in individuals with Rubinstein-Taybi syndrome at different stages of facial development.
Download full-text PDF |
Source |
---|
Cureus
March 2025
Department of Ophthalmology, Kindai University Hospital, Osakasayama, JPN.
We report two cases of Rubinstein-Taybi syndrome (RTS) with retinal detachment. Case 1 is a nine-year-old girl with RTS. She developed a macula-involving tractional retinal detachment (TRD) in the superior temporal quadrant of her right eye.
View Article and Find Full Text PDFRetin Cases Brief Rep
February 2025
Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA.
Purpose: To highlight findings of retinal exudation with exudative retinal detachment in a patient with Rubinstein-Taybi syndrome (RSTS) due to CREBBP mutation, successfully treated with laser, with the goal of adding to the known phenotypic spectrum of ophthalmic manifestations of RSTS.
Methods: A case report of a pediatric patient evaluated with multimodal imaging including fundus photography and fluorescein angiography.
Results: A 15-year-old female with RSTS caused by a frameshift mutation in CREBBP was referred for retinal examination under anesthesia.
Front Genet
January 2025
DNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, Russia.
Introduction: Rubinstein-Taybi syndrome (RSTS) is one of the many forms of syndromic intellectual disability, occurring in the population with a frequency of 1: 100-125 thousand newborns. The specific phenotype of patients enables the so-called "portrait" diagnosis of classical cases of RSTS, followed by the analysis of the and EP300 genes, whose association with RSTS has been confirmed. Nevertheless, for approximately half of the patients in various cohorts, the diagnosis cannot be confirmed.
View Article and Find Full Text PDFRubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder characterized by post-natal growth retardation, facial dysmorphism, large thumbs and halluces, and intellectual deficits. RTS has a broad phenotypic spectrum including cardiac, genitourinary, digestive, ear, nose and throat, and skin manifestations. Patients also have an increased risk of severe infections, developing benign tumors, and immunological abnormalities suggesting primary immunodeficiencies.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Fondazione IRCSS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy.
Mendelian disorders of the epigenetic machinery (MDEMs) include a large number of conditions caused by defective activity of a member of the epigenetic machinery. MDEMs are characterized by multiple congenital abnormalities, intellectual disability and abnormal growth. that can be variably up- or down-regulated.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!