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Baraitser-Winter syndrome was first described as a syndrome of mental retardation with bilateral ptosis, iris coloboma, widely spaced eyes, broad epicanthus, flattened nasal bridge, hypertelorism, and short stature (Baraitser and Winter, 1988; Baraitser-Winter- iris co, 2016). In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally shaped ears, deafness, congenital heart defects, microphthalmia, metopic ridge, microcephaly, pachygyria, progressive joint stiffness, epilepsy, syndactyly, and dystonia, among other less reported signs (Baraitser and Winter, 1988; Ganesh et al., 2005; Abou Henedy et al., 2011; Verloes et al., 2015). The syndrome is due to a variant on either ACTB or ACTG1 genes (Di Donato et al., 2013; Rivière et al., 2012). We report a 3-year-old girl with short stature, mild developmental delay and intellectual disability, minor brain anomalies and very few dysmorphic features including unusual stroma of the irises and corectopia. Exome sequencing reported a de novo pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum which may be mild.
This article was published in the following journal.
Name: European journal of medical genetics
De Winter syndrome is an electrocardiogram (ECG) pattern related to acute occlusion of the anterior descending artery. The incidence rate of De Winter syndrome is rare, but still requires much attenti...
Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual dis...
To evaluate ocular surface and Meibomian glands morphology of patients with obstructive sleep apnea syndrome (OSAS).
To summarize the ocular and systemic associations of floppy eyelid syndrome (FES) as well as provide an up-to-date review on the pathogenesis and treatment strategies.
To evaluate the characteristics of Vogt-Koyanagi-Harada (VKH) syndrome in Brazilian children. M Clinical data were obtained from the medical records of six children with VKH disease from March 2014 to...
Dry eye syndrome and ocular surface disease are very important ophthalmologic diseases. It is known that various inducers are involved. However, it is still necessary to study how influenc...
This registry started January 1,2018 to collect patients who diagnosed as De Winter Symdrome for the first time in Hainan General Hospital.All enrolled patients will receive 30 days follow...
The study aims to compare the differences of ocular surface features in controls and patients with diabetes and dry eye syndrome, to thoroughly evaluate the ocular surface health of diabet...
Purpose: This study aimed to compare the ocular surface disease test results, anterior segment parameters, and ocular response analyzer (ORA) findings of polycystic ovary syndrome (PCOS) p...
This study investigates cold-induced brown fat activation in winter swimmers and not-winter swimmers by skin temperature measures assessed with infra red thermography imaging and iButtons....
Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions.
The dioptric adjustment of the EYE (to attain maximal sharpness of retinal imagery for an object of regard) referring to the ability, to the mechanism, or to the process. Ocular accommodation is the effecting of refractive changes by changes in the shape of the CRYSTALLINE LENS. Loosely, it refers to ocular adjustments for VISION, OCULAR at various distances. (Cline et al., Dictionary of Visual Science, 4th ed)
A primary headache disorder that is characterized by frequent short-lasting, unilateral, neuralgiform pain attacks in the ocular area, with CONJUNCTIVA fluid-filling and tearing. SUNCT syndrome is usually resistant to treatment.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Ocular disorders attendant upon non-ocular disease or injury.
Ophthalmology is the branch of medicine that is devoted to the study and treatment of eye diseases. As well as mild visual defects correctable by lenses, ophthalmology is concerned with glaucoma, uveitis and other serious conditions affecting the eye, ...
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...