Oculocerebrocutaneous Syndrome: Signs & Etiologies
نویسندگان
چکیده
منابع مشابه
Delleman Oorthuys syndrome: ‘Oculocerebrocutaneous syndrome’
Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and...
متن کاملThe oculocerebrocutaneous (Delleman) syndrome.
L I AL-GAZALI*, D DONNAIt, S A BERRYI, B SAY§, AND R F MUELLER* From *the Department of Genetic Counselling, The Clarendon Wing, Leeds General Infirmary, Leeds; tthe Department of Medical Genetics, St Mary's Hospital, Manchester; tthe Division of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; and §the H Allen Chapman Research Institute of Medical Genetics, ...
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BACKGROUND Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderanc...
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Sir—Koelle et al. [1] recently studied 22 pairs of identical twins discordant for chronic fatigue syndrome and concluded that there was no major contribution for viral infections in the perpetuation of chronic fatigue syndrome (CFS). The authors should be commended for their methodology and the use of well-matched control subjects. However, the study raised several issues. First, similar to pre...
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Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract. There are characteristic mucocutaneous features which allow early recognition of the disease and are generally present before internal malignancies devel...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1997
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-11-11-11