Results 11 to 20 of about 3,568 (145)

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome. [PDF]

Neurogastroenterol Motil
Ganglion cells immunohistochemically labeled with pan‐neuronal marker HuC/D in sections from ileum. Note the different number of stained cells in the myenteric plexus. A, control subject, B, patient with SOX10 mutation (hypoganglionosis) C, patient with EDN3 mutation (aganlionosis). Both patients diagnosed with Waardenburg syndrome type 4 including gut
Ersson B, Gustafson E, Danielson J, Alafuzoff I.   +3 more
europepmc   +2 more sources

Waardenburg syndrome [PDF]

Clinical and Experimental Optometry, 2011
Waardenburg syndrome (WS), first described by Dutch ophthalmologist PJ Waardenburg, is a congenital developmental disorder characterised by congenital hearing loss and abnormal pigmentation of the eye, hair and skin.1-10 This condition is divided into four types: •Type I WS (WS1) consists of dystopia canthorum and broad nasal root.
Bist, Jeewanand, Adhikari, Prakash, Sharma, Ananda Kumar   +2 more
openaire   +4 more sources

A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome

Endocrinology, Diabetes & Metabolism Case Reports, 2021
The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi, Akihito Takei, Nobukazu Okada, Miki Shinohara, Manabu Takahashi, Shuichi Nagashima, Kenta Okada, Ken Ebihara, Shun Ishibashi   +8 more
doaj   +1 more source

Bilateral symmetrical maculopathy and heterochromia in Waardenburg syndrome [PDF]

Revista Brasileira de Oftalmologia, 2023
Waardenburg syndrome is a rare congenital genetic disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the hair, skin, and eyes.
Paulo de Tarso Ponte Pierre-Filho, Lucas Linhares Pierre   +1 more
doaj   +1 more source

Waardenburg Syndrome [PDF]

Audiological Medicine, 1997
Auditory-pigmentary syndromes are caused by physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea. Dominantly inherited examples with patchy depigmentation are usually labelled Waardenburg syndrome (WS). Type I WS, characterised by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene ...
A P, Read, V E, Newton
openaire   +2 more sources

Establishment of an iPSC line (CPGHi005-A) from a patient with Waardenburg syndrome carrying a heterozygous SVA-F retrotransposon insertion into SOX10

Stem Cell Research, 2022
Mutations of SOX10 result in Waardenburg syndrome characterized by sensorineural hearing loss and pigmentary abnormalities, which can be found in association with a defect of migrating neural crest cells.
Xiaohong Li, Xue Gao, Shasha Huang, Mingyu Han, Dongyang Kang, Jinyuan Yang, Xiedong Wu, Qiuchen Zheng, Yongyi Yuan, Pu Dai, Guojian Wang   +10 more
doaj   +1 more source

A Case Study of Two Siblings of Waardenburg Syndrome

Delhi Journal of Ophthalmology, 2019
Waardenburg syndrome is a rare genetically heterogenous disorder of neural crest cell development. Six distinctive features comprising this syndrome include: (1) telecanthus, (2) broad nasal root, (3) synophrys of the eyebrows, (4) a white forelock, (5 ...
Kritika Katoch, Indu Dhiman, Gaurav Sharma   +2 more
doaj   +1 more source

Case of Waardenburg Shah syndrome in a family with review of literature

Journal of Otology, 2018
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 Shah
Setty.L.N. Chandra Mohan
doaj   +1 more source

Waardenburg syndrome

Indian Journal of Dermatology, Venereology and Leprology, 2006
Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively ...
Sunita, Tagra, Amrita Kaur, Talwar, Rattan Lal Singh, Walia, Puneet, Sidhu   +3 more
openaire   +3 more sources

Anesthetic management of Shah-Waardenburg syndrome: Experience of two cases and review of literature

Saudi Journal of Anaesthesia, 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.
Uday S Ambi, E S Adarsh, Ramesh Hatti, Vijaymahantesh Samalad   +3 more
doaj   +1 more source