CODAS syndrome: a new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report.
We report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings of spondylo-epiphyseal dysplasia. The clinical picture resembles the CODAS syndrome described by Shebib et al. [Am J Med Genet 40: 88-93, 1991].
de Almeida
J C
JC
Unidade de Citogenética Humana, Instituto de Biofísica CCFO, UFRJ, Brazil.
Vargas
F R
FR
Barbosa-Neto
J G
JG
Llerena
J C
JC
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics; D011859:Radiography