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, gl...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 43; no. 5; p. 805
Main Authors Ceballos-Quintal, J M, Pinto-Escalante, D, Gongora-Biachi, R A
Format Journal Article
LanguageEnglish
Published United States 15.07.1992
Subjects
Consanguinity
Female
Genes, Recessive - genetics
Humans
Indians, North American - genetics
Infant
Mexico
Pedigree
Radius - abnormalities
Syndrome
Thrombocytopenia - blood
Thrombocytopenia - genetics
Mexico
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320430510