Eponyms in the dermatology literature linked to Netherlands
Eponyms in the dermatology literature linked to Netherlands Remarks Cornelia de Lange Syndrome (CDLS) [2-3] It is also known as Brachman de Lange syndrome or Amsterdam dwarf,.It is characterized by a typical facies along with hypertrichosis, cutis marmorata and a bluish discoloration of the facial s...
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Published in | Nasza dermatologia online Vol. 3; no. Suppl.2; pp. 422 - 423 |
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Main Authors | , |
Format | Journal Article |
Language | English |
Published |
Slupsk
Our Dermatology Online
02.09.2013
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Subjects | |
Online Access | Get full text |
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Summary: | Eponyms in the dermatology literature linked to Netherlands Remarks Cornelia de Lange Syndrome (CDLS) [2-3] It is also known as Brachman de Lange syndrome or Amsterdam dwarf,.It is characterized by a typical facies along with hypertrichosis, cutis marmorata and a bluish discoloration of the facial skin. Waardenburg syndrome (WS) [8-11] It is a rare autosomal dominant or autosomal recessive disorder that is characterized by various combinations of clinical features.WS is named after a Dutch ophthalmologist, Petrus Johannes Waardenburg (1886-1979), (Fig. 2 [See PDF]), who described the syndrome in 1951. The major criteria are sensorineural hearing loss, iris pigmentary abnormality (two eyes different color or iris bicolor or characteristic brilliant blue iris), hair hypopigmentation (white forelock or white hairs at other sites on the body), dystopia canthorum (lateral displacement of inner canthi) and the presence of a first-degree relative previously diagnosed with WS. |
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ISSN: | 2081-9390 2081-9390 |
DOI: | 10.7241/ourd.20133.107 |