Search results for "Palpebral fissure"
showing 7 items of 7 documents
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
2009
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five ot…
Ophthalmologic complications after intraoral local anesthesia with articaine.
2000
A series of 14 cases of ophthalmologic complications after intraoral anesthesia of the posterior superior alveolar nerve is presented. The most commonly encountered symptoms were diplopia, mydriasis, palpebral ptosis, and abduction difficulties of the affected eye. In all cases, these effects occurred a few minutes after injection of the anesthetic, followed by complete resolution without sequelae on cessation of the anesthetic effect. The pathogenic mechanism underlying such ophthalmologic disorders is discussed in terms of a possible diffusion of the anesthetic solution toward the orbital region.
Clinical Delineation Of A Subtype Of Frontonasal Dysplasia With Creased Nasal Ridge And Upper Limb Anomalies: Report Of Six Unrelated Patients
2017
IF 2.259; International audience; Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr…
Kohlschütter-Tönz Syndrome: report of an additional case
2013
Kohlschütter-Tönz Syndrome is a rare disorder clinically characterized by amelogenesis imperfecta, epilepsy and progressive mental deterioration. We present an additional case of this syndrome of a nine year-old boy who was referred by pigmented teeth. The mental deterioration was associated with speech delay, impulsive behavior, attention-deficit/hyperactivity disorder, and learning problems. The physical examination revealed a reduction of lower third, slightly palpebral fissures, low ear and hair implantation, coarse hair and hypertrichosis. The intraoral examination showed alteration in teeth pigmentation diagnosed as amelogenesis imperfecta. Although rare, the present case report illus…
Congenital Malformations and Syndromes: Early Diagnosis and Prognosis
2012
Congenital malformations are defects of the morphogenesis of organs or body regions identified during intrauterine development or at birth. They may be isolated and single, or multiple. Their global birth prevalence is about 2–3%. Congenital defects may be caused by genetic and/or environmental factors, acting singly or in combination. Diagnostic and therapeutic tools have allowed better identification of congenital malformations and have reduced long-term morbidity and mortality in affected patients. Because of increased life expectancy, congenital malformations today represent a major issue in health care because of the resources needed for multidisciplinary care.
Treacher Collins syndrome-a case report and review of literature
2011
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. It is named after E Treacher Collins who described the essential components of the condition in 1900. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally. It affects structures which are derivatives of the first and second brachial arches. The most common manifestations of TCS are the antimongloid slanting of the palpebral fissures, colobomas of the lower eyelid, hypoplasia of zygoma and mandible; and a variety of ear abnormalities. This article describes clinical and radiographic features of T…
Use of digital displays and ocular surface alterations: A review.
2020
Digital display use has been accepted to be implicated as a contributing factor for dry eye disease (DED). Abnormal blinking during computer operation, including a reduced blink rate and an incomplete eyelid closure, increased palpebral fissure as consequence of high visualization angles, and meibomian gland dysfunction associated to long-term display use, are behind the increased prevalence of dry eye signs and symptoms found in digital display users. Previous research reveals significant reductions in tear volume and stability, alterations in tear film composition, including increased osmolarity, inflammatory cytokines, oxidative stress markers and reduced mucin secretion, eyelid abnormal…