Open AccessExtended phenotypes in a boy and his mother with oto‐palato‐digital‐syndrome type II
Author(s) -
Kaissi Ali Al,
Kraschl Raimund,
Kaulfersch Wilhelm,
Grill Franz,
Ganger Rudolf
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.317
Subject(s) - medicine , frontal bossing , phenotype , anatomy , skull , phalanx , genetics , biology , gene
Key Clinical Message 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.