Track topics on Twitter Track topics that are important to you
No Summary Available
This article was published in the following journal.
Bilateral anterior opercular syndrome, also known as Foix-Chavany-Marie syndrome, is relatively rare and is characterized by inability of voluntary activation of facial, lingual, pharyngeal, and masti...
There are few published data available about simultaneous bilateral hip fractures. We present the case of a 56-year-old man with Down syndrome and Alzheimer-like dementia with simultaneous bilateral h...
The aim of this study was to examine the effectiveness of Ilizarov method in severe congenital flexion deformity of the knee. This was a retrospective study of eight consecutive bilateral cases (five ...
Umbilical cord ulceration has been associated with congenital upper intestinal (duodenal or jejunal) atresia and can lead to fatal fetal intrauterine hemorrhage. We report a case of spontaneous hemorr...
Corneal Dystrophy and Perceptive Deafness (CDPD) or Harboyan syndrome is an autosomal recessive rare disorder, characterized by congenital corneal opacities and progressive sensorineural hearing loss,...
This study is being conducted as a feasibility clinical investigation to collect safety and technical performance data of the WOLF Thrombectomy Device for the removal of thrombus in the ne...
Neurotrophic keratitis (NK) is a rare degenerative corneal disease caused by altered innervation of the trigeminal nerve that leads to rupture of the corneal epithelium, the regeneration d...
Modified corneal epithelial autograft (EA) uses a smaller graft of the donor eye, which decreases iatrogenic injury greatly. The purpose of this study is to explore whether modified cornea...
Corneal melt is a complication that could affect very ill eyes and lead to the thinning of the cornea (the clear window covering of the eyes). This thinning can lead to severe consequences...
Recurrent corneal erosion (RCE) syndrome can be observed either in the context of a dystrophy of the basement membrane or following corneal trauma. This syndrome is characterized by recurr...
A syndrome caused by large deletions of the telomereic end of the short arm of CHROMOSOME 4 (4p) in Wolf-Hirchhorn syndrome critial regions (WHSCRs). Several candidate genes have been identified including WHSC1 and WHSCH2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of MICROCEPHALY, broad forehead, prominent glabella, HYPERTELORISM, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, EPILEPSY, and frequently a wide range of midline and skeletal defects, including HYPOSPADIAS; CONGENITAL HEART DEFECTS; CLEFT LIP; CLEFT PALATE; colobomata; CLUBFOOT; clinodactyly; SCOLIOSIS; and KYPHOSIS.
An oculomandibulofacial syndrome principally characterized by dyscephaly (usually brachycephaly), parrot nose, mandibular hypoplasia, proportionate nanism, hypotrichosis, bilateral congenital cataracts, and microphthalmia. (Dorland, 27th ed)
Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness.
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.
New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.
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...