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

Détails

ID Serval
serval:BIB_3E5BA97B8749
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
Périodique
American Journal of Medical Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
2000
Peer-reviewed
Oui
Volume
95
Numéro
3
Pages
193-200
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, U.S. Gov't, P.H.S.Publication Status: ppublish
Résumé
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.
Mots-clé
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
Création de la notice
20/06/2015 12:01
Dernière modification de la notice
20/08/2019 13:35
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