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Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case

Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hyp...

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Autores principales: Patra, Soumya, Purkait, Radheshyam, Samanta, Tryambak, Bhadra, Ramchandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724097/
https://www.ncbi.nlm.nih.gov/pubmed/23956587
http://dx.doi.org/10.4103/0972-2327.112502
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author Patra, Soumya
Purkait, Radheshyam
Samanta, Tryambak
Bhadra, Ramchandra
author_facet Patra, Soumya
Purkait, Radheshyam
Samanta, Tryambak
Bhadra, Ramchandra
author_sort Patra, Soumya
collection PubMed
description Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome.
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spelling pubmed-37240972013-08-16 Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case Patra, Soumya Purkait, Radheshyam Samanta, Tryambak Bhadra, Ramchandra Ann Indian Acad Neurol Case Report Varadi Papp syndrome or oral-facial-digital syndrome type VI (OFDS VI) is a rare autosomal-recessive disorder distinguished from other OFDSs by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Our patient had a broad forehead, arched eyebrows, left-sided squint, hypertelorism, epicanthic folds, fleshy nodular tongue, midline upper lip cleft, high arched palate, both pre-axial and post-axial polydactyly of limbs, hypotonia and cerebellar hypoplasia with molar tooth sign consistent with the diagnosis of Varadi Papp syndrome. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3724097/ /pubmed/23956587 http://dx.doi.org/10.4103/0972-2327.112502 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Patra, Soumya
Purkait, Radheshyam
Samanta, Tryambak
Bhadra, Ramchandra
Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title_full Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title_fullStr Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title_full_unstemmed Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title_short Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
title_sort varadi papp syndrome, an unusual variant of oral-facial-digital syndrome: report of a rare case
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724097/
https://www.ncbi.nlm.nih.gov/pubmed/23956587
http://dx.doi.org/10.4103/0972-2327.112502
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