Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification

T Ogata; N Matsuo; G Nishimura; H Hajikano

doi:10.1002/ajmg.1320360217

Oto-palato-digital syndrome, type II: evidence for defective intramembranous ossification

Am J Med Genet. 1990 Jun;36(2):226-31. doi: 10.1002/ajmg.1320360217.

Authors

T Ogata¹, N Matsuo, G Nishimura, H Hajikano

Affiliation

¹ Department of Pediatrics, Keio University School of Medicine, Japan.

PMID: 2114799
DOI: 10.1002/ajmg.1320360217

Abstract

We report on a Japanese boy with oto-palato-digital syndrome type II, an X-linked lethal congenital skeletal dysplasia. The clinical, radiological and histological findings indicate that defective intramembranous ossification may be the principal abnormality responsible for the entity.

MeSH terms

Bone and Bones / abnormalities
Bone and Bones / diagnostic imaging
Foot Deformities, Congenital / complications
Foot Deformities, Congenital / diagnostic imaging
Foot Deformities, Congenital / genetics*
Foot Deformities, Congenital / pathology
Genetic Linkage
Humans
Infant, Newborn
Male
Mouth Abnormalities / complications
Mouth Abnormalities / diagnostic imaging
Mouth Abnormalities / genetics*
Mouth Abnormalities / pathology
Ossification, Heterotopic / genetics*
Radiography
Syndrome
X Chromosome*