Autosomal dominant osteosclerosis type Stanescu: the third family.
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.
Horovitz
D D
DD
Centro de Genética Médica-Instituto Fernandes Figueira.
Barbosa Neto
J G
JG
Boy
R
R
Vargas
F R
FR
Llerena Júnior
J C
JC
de Almeida
J C
JC
D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010026:Osteosclerosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D011859:Radiography