Partial Albinism and Deaf Mutism

Ziprkowski, L.; Krakowski, Anatol; Adam, A.; Costeff, Hanan; Sade, J.

doi:10.1001/archderm.1962.01590100144027

Cited by 93 publications

(5 citation statements)

References 4 publications

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“…The grey-morph and partial-grey-morph phenotypes (previously known as partial albino and grey-blaze, respectively) appear to be controlled by an X-linked gene, whereas the white blaze appears controlled by an autosomal gene (recessive phenotype). A number of forms of partial albinism have been identified in other mammals, including three which may be X-linked (Fraser et al, 1953;Tietz, 1963;Zipkowski et al, 1962).…”

Section: Discussionmentioning

confidence: 99%

Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora)

et al. 2013

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Anomalous colourations occur in many tropical vertebrates. However, they are considered rare in wild populations, with very few records for the majority of animal taxa. We report two new cases of anomalous colouration in mammals. Additionally, we compiled all published cases about anomalous pigmentation registered in Neotropical mammals, throughout a comprehensive review of peer reviewed articles between 1950 and 2010. Every record was classified as albinism, leucism, piebaldism or eventually as undetermined pigmentation. As results, we report the new record of a leucistic specimen of opossum (Didelphis sp.) in southern Brazil, as well as a specimen of South American fur seal (Arctocephalus australis) with piebaldism in Uruguay. We also found 31 scientific articles resulting in 23 records of albinism, 12 of leucism, 71 of piebaldism and 92 records classified as undetermined pigmentation. Anomalous colouration is apparently rare in small terrestrial mammals, but it is much more common in cetaceans and michrochiropterans. Out of these 198 records, 149 occurred in cetaceans and 30 in bats. The results related to cetaceans suggest that males and females with anomolous pigmentation are reproductively successful and as a consequence their frequencies are becoming higher in natural populations. In bats, this result can be related to the fact these animals orient themselves primarily through echolocation, and their refuges provide protection against light and predation. It is possible that anomalous colouration occurs more frequently in other Neotropical mammal orders, which were not formally reported. Therefore, we encourage researchers to publish these events in order to better understand this phenomenon that has a significant influence on animal survival.Keywords: albinism, hypopigmentation, leucism, Neotropical mammals, piebaldism.Coloração anômala em mamíferos Neotropicais: uma revisão com novos registros para Didelphis sp. (Didelphidae, Didelphimorphia) e Arctocephalus australis (Otariidae, Carnivora) ResumoColorações anômalas ocorrem em muitos vertebrados tropicais. Entretanto, estas são consideradas raras em populações selvagens, havendo poucos registros para a maioria dos táxons. Reportam-se, neste estudo, dois novos casos de coloração anômala em mamíferos. Além disso, por meio de uma extensa revisão bibliográfica, foram compilados os casos publicados sobre coloração anômala em mamíferos neotropicais entre 1950 e 2010. Cada registro foi classificado como albinismo, leucismo, piebaldismo ou, eventualmente, como coloração indeterminada. Como resultados, reportouse o registro de um espécime leucístico de gambá (Didelphis sp.) no sul do Brasil e de um espécime de lobo-marinho sul-americano (Arctocephalus australis) com piebaldismo no norte do Uruguai. Também foram analisados 31 artigos científicos, resultando em 23 registros de albinismo, 12 de leucismo, 71 de piebaldismo e 92 registros classificados como de pigmentação indeterminada. A coloração anômala aparentemente é rara em pequenos mamíferos terrestres...

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Section: Discussionmentioning

confidence: 99%

Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora)

et al. 2013

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“…The association of deafness and vitiligo with an autosomal‐recessive mode of inheritance is known as Rozycki syndrome 12 . Ziprkowski–Margolis syndrome is an X‐linked recessive condition characterized by congenital deafness and pigmentary abnormalities of the skin and hair 13,14 …”

Section: Discussionmentioning

confidence: 99%

Waardenburg syndrome: case report

Krishtul

Galadari

2003

Int J Dermatology

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A 15‐year‐old Arab boy presented with congenital deafness, heterochromia iridis (right, brown; left, blue), poliosis (white forelock), with an area of leukoderma beneath the forelock, broad nasal root, and lateral displacement of the medial canthi (Fig. 1). Further investigation revealed that one of his siblings was similarly affected. The child was diagnosed with Waardenburg syndrome. 1 Waardenburg syndrome: white forelock, heterochromia iridis, broad nasal root, leukoderma and hypertrichosis of medial eyebrows As the child grew older, the leukodermic patch on the scalp became more evident, together with confluence of the eyebrows (synophrys).

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“…Several syndromes with albinism and deafness are explained by autosomal recessive or dominant, or X-linked recessive inheritance (6)(7)(8)(9)(10)(11)(12)(13). The causative locus has been identified for several of these syndromes (8,14).…”

Section: Discussionmentioning

confidence: 99%

Cochlear Implantation for Symptomatic Hereditary Deafness

Nishizaki

Fukushiama

Oda

et al. 1999

Acta Oto-Laryngologica

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Y. Cochlear implantation for symptomatic hereditary deafness. Acta Otolaryngol (Stockh) 1999; Suppl 540: 34 -37.Recently, the effectiveness of cochlear implantation for hereditary deafness has been reported. We performed cochlear implantation for two patients with symptomatic hereditary deafness. Deafness in one patient was thought to be a result of albinism-deafness syndrome and in the other patient, a result of chronic progressive external ophthalmoplegia syndrome. Since their speech perception abilities improved dramatically, we believe that cochlear implantation should be actively performed for these two syndromes.

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Partial Albinism and Deaf Mutism

Cited by 93 publications

References 4 publications

Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora)

Anomalous colour in Neotropical mammals: a review with new records for Didelphis sp. (Didelphidae, Didelphimorphia) and Arctocephalus australis (Otariidae, Carnivora)

Waardenburg syndrome: case report

Cochlear Implantation for Symptomatic Hereditary Deafness

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