Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother
por: Kaissi, Ali Al, et al.
Publicado: (2012) -
Distinctive Skeletal Abnormalities With No Microdeletions or Microduplications on Array-CGH in a Boy With Mohr Syndrome (Oro-Facial-Digital Type II)
por: Kaissi, Ali Al, et al.
Publicado: (2015) -
Spinal Exostosis in a Boy with Multiple Hereditary Exostoses
por: Al Kaissi, Ali, et al.
Publicado: (2013) -
Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype
por: Al Kaissi, Ali, et al.
Publicado: (2014) -
Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
por: Al Kaissi, Ali, et al.
Publicado: (2008)