Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II

We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother′s radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the...

Descripción completa

Detalles Bibliográficos
Autores principales: Kaissi, Ali Al, Kraschl, Raimund, Kaulfersch, Wilhelm, Grill, Franz, Ganger, Rudolf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574794/
https://www.ncbi.nlm.nih.gov/pubmed/26401283
http://dx.doi.org/10.1002/ccr3.317
_version_ 1782390676580728832
author Kaissi, Ali Al
Kraschl, Raimund
Kaulfersch, Wilhelm
Grill, Franz
Ganger, Rudolf
author_facet Kaissi, Ali Al
Kraschl, Raimund
Kaulfersch, Wilhelm
Grill, Franz
Ganger, Rudolf
author_sort Kaissi, Ali Al
collection PubMed
description We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother′s radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges.
format Online
Article
Text
id pubmed-4574794
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher John Wiley & Sons, Ltd
record_format MEDLINE/PubMed
spelling pubmed-45747942015-09-23 Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II Kaissi, Ali Al Kraschl, Raimund Kaulfersch, Wilhelm Grill, Franz Ganger, Rudolf Clin Case Rep Case Reports We describe additional phenotypic features in a boy and his mother. Both manifested the phenotypic/genotypic correlation of oto-palato-digital syndrome type II. The mother′s radiographs showed wormian bones of the skull, and paranasal bossing, her feet showed bilateral fusion of the cuboid with the lateral cuneiform bone with subsequent development of metatarsus varus associated with dysplastic distal phalanges. John Wiley & Sons, Ltd 2015-09 2015-08-20 /pmc/articles/PMC4574794/ /pubmed/26401283 http://dx.doi.org/10.1002/ccr3.317 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Kaissi, Ali Al
Kraschl, Raimund
Kaulfersch, Wilhelm
Grill, Franz
Ganger, Rudolf
Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title_full Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title_fullStr Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title_full_unstemmed Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title_short Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II
title_sort extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type ii
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574794/
https://www.ncbi.nlm.nih.gov/pubmed/26401283
http://dx.doi.org/10.1002/ccr3.317
work_keys_str_mv AT kaissialial extendedphenotypesinaboyandhismotherwithotopalatodigitalsyndrometypeii
AT kraschlraimund extendedphenotypesinaboyandhismotherwithotopalatodigitalsyndrometypeii
AT kaulferschwilhelm extendedphenotypesinaboyandhismotherwithotopalatodigitalsyndrometypeii
AT grillfranz extendedphenotypesinaboyandhismotherwithotopalatodigitalsyndrometypeii
AT gangerrudolf extendedphenotypesinaboyandhismotherwithotopalatodigitalsyndrometypeii

Ejemplares similares