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- Title
Extended phenotypes in a boy and his mother with oto-palato-digital-syndrome type II.
- Authors
Kaissi, Ali Al; Kraschl, Raimund; Kaulfersch, Wilhelm; Grill, Franz; Ganger, Rudolf
- Abstract
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.
- Subjects
PHENOTYPES; SKELETAL abnormalities; MOTHERS; GENOTYPES; PIGEON toe; DISEASES
- Publication
Clinical Case Reports, 2015, Vol 3, Issue 9, p762
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.317