Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

Details

Serval ID
serval:BIB_3E5BA97B8749
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
Journal
American Journal of Medical Genetics
Author(s)
Savarirayan R., Cormier-Daire V., Unger S., Lachman R.S., Roughley P.J., Wagner S.F., Rimoin D.L., Wilcox W.R.
ISSN
0148-7299 (Print)
ISSN-L
0148-7299
Publication state
Published
Issued date
2000
Peer-reviewed
Oui
Volume
95
Number
3
Pages
193-200
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, U.S. Gov't, P.H.S.Publication Status: ppublish
Abstract
Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic defect is not known. There has been only one detailed report of the chondro-osseous abnormalities in this condition describing abnormal periosteal ossification in a single case [1990: Am J Med Genet 36:226-231]. We report on three cases of OPD II emphasizing the chondro-osseous morphology. Although endochondral ossification was normal, periosteal ossification was defective with islands of cortical bone aplasia and hyperplasia of the periosteum. The trabecular bone was also extremely poorly formed and markedly hypercellular. Both membranous ossification and bone remodeling appear to be defective in OPD II and should account for part of the observed phenotype. The biglycan gene maps to Xq28 and is involved in bone formation, but was excluded as a candidate by direct sequencing of cDNA in one case.
Keywords
Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Ear/abnormalities, Family Health, Fatal Outcome, Fingers/abnormalities, Heteroduplex Analysis, Humans, Infant, Newborn, Limb Deformities, Congenital/pathology, Limb Deformities, Congenital/radiography, Male, Microscopy, Electron, Osteochondrodysplasias/genetics, Osteochondrodysplasias/pathology, Palate/abnormalities, Periosteum/abnormalities, Periosteum/pathology, Point Mutation, Registries, Ribs/abnormalities, Ribs/pathology, Sequence Analysis, DNA, Spine/abnormalities, Spine/pathology
Pubmed
Web of science
Create date
20/06/2015 12:01
Last modification date
20/08/2019 13:35
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