Autosomal dominant osteosclerosis type stanescu: the third family
Am. j. med. genet
; 55: [605-609], 1995.
Article
in English
| Coleciona SUS
| ID: biblio-944120
Responsible library:
BR440.1
Localization: BR440.1
ABSTRACT
We describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our knowledge, only two such families have been described previously. The autosomal dominant pattern of inheritance of this skeletal dysplasia is reinforced, as there are many other reportedly affected relatives, including the maternal grandfather, uncles, and aunts of the propositus. The findings of wormian bones and calcification of the falx, not previously described, may be added to the phenotype.
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Collection:
National databases
/
Brazil
Database:
Coleciona SUS
Main subject:
Osteosclerosis
/
Sclerosis
/
Bone Diseases, Developmental
/
Chromosome Aberrations
Limits:
Humans
Language:
English
Journal:
Am. j. med. genet
Year:
1995
Document type:
Article