Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis

D Chitayat; K Silver; E M Azouz

doi:10.1002/ajmg.1320430304

Skeletal dysplasia, intracerebral calcifications, optic atrophy, hearing impairment, and mental retardation: nosology of dysosteosclerosis

Am J Med Genet. 1992 Jun 1;43(3):517-23. doi: 10.1002/ajmg.1320430304.

Authors

D Chitayat¹, K Silver, E M Azouz

Affiliation

¹ Department of Pediatrics, Centre for Human Genetics, Montreal, Quebec, Canada.

PMID: 1605243
DOI: 10.1002/ajmg.1320430304

Abstract

A girl who presented at 3 months of life with severe developmental delay, blindness, and hearing impairment was found to have intracerebral calcifications. Skeletal films showed craniotubular bone modeling consistent with dysosteosclerosis. The nosology of this disorder is discussed.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple*
Brain Diseases / diagnostic imaging*
Calcinosis / diagnostic imaging*
Child, Preschool
Female
Hearing Loss / complications
Humans
Intellectual Disability / complications
Optic Atrophy / complications
Osteosclerosis / diagnostic imaging*
Radiography