Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
نویسندگان
چکیده
منابع مشابه
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, res...
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Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...
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Purpose: To report the presence of hypertropia with esotropia in the case of anisometropic Heavy Eye Syndrome (HES). Case Report: A 33-years old lady referred to the strabismus clinic for evaluation. The patientchr('39')s esotropia started at the age of 12 and gradually increased. Corrected visual acuity was 2/10 and 4/100 and refraction was -24-3.25×103 and -10.25-0.75× 34 in the right and lef...
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Moyamoya disease is a rare, chronic cerebrovascular occlusive disease of unknown etiology. It is characterized by progressive stenosis of the arteries of the circle of Willis leading to ischemic strokes in young people and cerebral hemorrhage, which is more frequent in adults. Secondarily, an abnormal network of fine collateral vessels arises at the base of the brain. The term moyamoya refers t...
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ژورنال
عنوان ژورنال: Case Reports in Genetics
سال: 2015
ISSN: 2090-6544,2090-6552
DOI: 10.1155/2015/943905