R. Savarirayan et al., Oto-palato-digital syndrome, type II: Report of three cases with further delineation of the chondro-osseous morphology, AM J MED G, 95(3), 2000, pp. 193-200
Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal
dysplasia with pleiotropic manifestations. The basic defect is not known. T
here 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 ossificat
ion was normal, periosteal ossification was defective with islands of corti
cal bone aplasia and hyperplasia of the periosteum. The trabecular bone was
also extremely poorly formed and markedly hypercellular. Both membranous o
ssification 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 dire
ct sequencing of cDNA in one case. Am. J. Med, Genet. 95:193-200, 2000, (C)
2000 Wiley-Liss, Inc.