Cargando…
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...
Autores principales: | , , , |
---|---|
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 |
_version_ | 1782476646269321216 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3724097 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT patrasoumya varadipappsyndromeanunusualvariantoforalfacialdigitalsyndromereportofararecase AT purkaitradheshyam varadipappsyndromeanunusualvariantoforalfacialdigitalsyndromereportofararecase AT samantatryambak varadipappsyndromeanunusualvariantoforalfacialdigitalsyndromereportofararecase AT bhadraramchandra varadipappsyndromeanunusualvariantoforalfacialdigitalsyndromereportofararecase |