Zobrazeno 1 - 10
of 115
pro vyhledávání: '"white forelock"'
Publikováno v:
Kerala Journal of Ophthalmology, Vol 34, Iss 2, Pp 171-173 (2022)
A day-old male neonate presented with white forelock on his forehead. On evaluation, the neonate had telecanthus, broad nasal bridge, and surprisingly homochromic but hypochromic irides bilaterally. The W-index was 2.38 which was an indication of Typ
Externí odkaz:
https://doaj.org/article/a110181f75be40688720d334992040e9
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 9, Iss 3, Pp 198-201 (2019)
Waardenburg syndrome (WS) is a rare congenital disorder primarily characterized by characteristic facial abnormalities as dystopia canthorum and synophrys; depigmentation of the hair, skin (premature graying of hair), and/or the iris of both eyes; an
Externí odkaz:
https://doaj.org/article/b09d5903188c4ea9a179c4d18c2f454b
Autor:
Rahul Gupta, Dinesh Kumar Barolia, Ramesh Tanger, Lila Dhar Agrawal, Arun Kumar Gupta, Ram Babu Goyal
Publikováno v:
Formosan Journal of Surgery, Vol 50, Iss 5, Pp 163-168 (2017)
Introduction: Shah-Waardenburg syndrome (SWS) is WS associated with Hirschsprung's disease. It is very rare with
Externí odkaz:
https://doaj.org/article/e474f651976240fc806ce3c159aa8aaa
Publikováno v:
Oman Journal of Ophthalmology, Vol 11, Iss 2, Pp 158-160 (2018)
Waardenburg Syndrome is a rare disorder of neural crest cell development. It is genetically inherited. Varying in prevalence from 1:42000 to 1:50,000, it compromises approximately 2-5% of congenital deaf children. The syndrome is not expressed in its
Externí odkaz:
https://doaj.org/article/40a7475a349a460ea04b411287a77089
Publikováno v:
MedUNAB, Vol 9, Iss 1, Pp 72-75 (2006)
We report the case of a girl of 2 months of age with achromic maculesin face, trunk and extremities and white forelock frontal from thebirth that corresponds to Piebaldism. Piebaldism is a skin diseaseautosomal dominant clinically characterized by wh
Externí odkaz:
https://doaj.org/article/5717c25ad9094d4faf2d51fe2bfb4a92
Publikováno v:
Cureus
Waardenburg syndrome (WS) is an interesting inherited audio-pigmentary disorder. The syndrome shows no gender, racial, or ethnic predilection. This unique disorder is characterized by pigmentary abnormalities, deafness, and neural crest-derived tissu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b68aef5ae79f6f9ecaf61cc424731ff4
https://doi.org/10.7759/cureus.10889
https://doi.org/10.7759/cureus.10889
Publikováno v:
Skin Appendage Disorders
Piebaldism is a rare autosomal dominant disorder characterized by leucoderma with leucotrichia. We describe a case of white forelock repigmentation in an infant with piebaldism, thanks to a photograph sent by the patient’s mother to our dermatology
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b03f2becea1dc2a9f81ac2422dc12a42
https://doi.org/10.1159/000512033
https://doi.org/10.1159/000512033
Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature
Publikováno v:
Saudi Journal of Anaesthesia, Vol 6, Iss 2, Pp 172-174 (2012)
Waardenburg syndrome (WS) is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development. Literature regarding the anesthetic management of these cases is limited. We present 2 cases of Shah-Waardenburg syndro
Externí odkaz:
https://doaj.org/article/d7266dcf9d2c460d8e2b02585031b027
Autor:
Setty.L.N. Chandra Mohan
Publikováno v:
Journal of Otology, Vol 13, Iss 3, Pp 105-110 (2018)
Journal of Otology
Journal of Otology
Waardenburg syndrome is a rare disease characterized by sensorineural deafness in association with pigmentary defects. Depending on additional symptoms, WS have been classified into four types. Waardenburg syndrome type 4, also called as Waardenburg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a83656a76f74ae720b9eab7a0a86788
http://www.sciencedirect.com/science/article/pii/S1672293018300060
http://www.sciencedirect.com/science/article/pii/S1672293018300060
Publikováno v:
Indian Journal of Nephrology
Indian Journal of Nephrology, Vol 28, Iss 3, Pp 226-228 (2018)
Indian Journal of Nephrology, Vol 28, Iss 3, Pp 226-228 (2018)
Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying degrees of hearing loss, pigmentary anomalies, and defects of other neural crest cell-derived structures. The association of WS with renal anomalies has been described in t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca2da6856d06b3982d4f6bd7131fe42
http://europepmc.org/articles/PMC5998718
http://europepmc.org/articles/PMC5998718