منابع مشابه
Nasopalpebral lipoma-coloboma syndrome.
An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without midface hypoplasia. It appears to be the second recorded example resulting from an autosomal dominant gene fully penetrant in both sexes.
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The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-...
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The clinical presentation of optic nerve anomalies associated with renal hypodysplasia should alert the clinician to the possibility that a patient may have renal coloboma syndrome, a condition also known as papillorenal syndrome (OMIM#120330). The optic nerve findings could be described as a ‘dysplasia’, characterized by absent central vessels with the emergence of vessels from the periphery o...
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Miyokart enfarktüsü sonrası VT nedeniyle ICD implante edilmeden önce elektrofizyolojik çalışma ile ileti sistemindeki hasar bölgesinin belirlenmesi ve yüksek dereceli AV blok riskinin öngörülebilmesi mümkündür. Böyle bir hastada AV blok nedeniyle ICD’nin sağ ventrikül apikal uyarı yapması ve atriyoventriküler dissenkroni hastanın kalp yetersizliğini kötüleştirebilir. Sol ventrikül işlevlerinin ...
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448 Mario Siebler, MD Department of Neurology, Heinrich Heine University Moorenstrasse 5 DE–40225 Düsseldorf (Germany) Tel. +49 211 81 18464, Fax +49 211 81 18485 E-Mail [email protected] bral digital subtraction angiography revealed a bilateral occlusion of the internal carotid arteries and the right vertebral artery, with the retrograde right ophthalmic artery as the only vessel supp...
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ژورنال
عنوان ژورنال: Indian Journal of Ophthalmology
سال: 2011
ISSN: 0301-4738
DOI: 10.4103/0301-4738.83615