TAR-like syndrome in a consanguineous Mayan girl.
We report on a 3-month-old girl with a TAR-like syndrome. Her older brother died with a similar disorder at 3 months of unknown causes. The parents are second cousins of Mayan ancestry. The infant also had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocorneae, and blue sclerae.
Ceballos-Quintal
J M
JM
Universidad Autonoma de Yucatan, Centro de Investigaciones Regionales Dr Hideyo Noguchi, Merida, Mexico.
Pinto-Escalante
D
D
Gongora-Biachi
R A
RA
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007198:Indians, North American / Q000235:genetics; D007223:Infant; D008800:Mexico; D010375:Pedigree; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000097:blood / Q000235:genetics*