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Diagnóstico Diferencial de Síndromes de Hipoplasia Medular Asociada a Malformación de Extremidades

1982; Elsevier BV; Volume: 53; Issue: 1-6 Linguagem: Inglês

10.4067/s0370-41061982000100051

0717-6228

Bianca Curotto L, Angélica Alliende R, Yves Lacassic S,

Assisted Reproductive Technology and Twin Pregnancy

We describe two sibs with typical Fanconi Pancytopenia (F.A.);a newborn with Trombocytopenia and Absent Radius (T.A.R.) who died soon after birth, and an infant with absent radii and thumbs and transient trombocytopenia present at birth.In this patient the finding of 10% of mitosis with chromosomal fractures and gaps would establish an unusually early diagnosis of F.A.The current knowledge about F.A.. T.A.R. and Aase syndrome as well the differential diagnosis between these syndromes of marrow hypoplasia associated to limbs malformations are reviewed.The basic clues for the diagnosis of these uncommon disorders arc stressed.