First report of glaucoma as a feature of the 3C syndrome.
We report the seventh case of the 3C syndrome or Cranio-Cerebello-Cardiac dysplasia. The presence of congenital glaucoma in our patient suggests that this is a previously undescribed feature of this syndrome, which is presumed to be autosomal recessive.
Saraiva
J M
JM
Paediatric Hospital of Coimbra, Avenida Bissaya Barreto, Portugal.
Gama
E
E
Pires
M M
MM
Sequeira
J F
JF
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D001921:Brain / Q000002:abnormalities; D005260:Female; D005901:Glaucoma / Q000151:congenital*; D006330:Heart Defects, Congenital / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D012886:Skull / Q000002:abnormalities; D013577:Syndrome