Acta médica portuguesa
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Acta médica portuguesa · Apr 1999
Review Case Reports[Type-II dyserythropoietic anemia. A partial form of the glycoprotein degradation syndrome?].
The authors present a case of a boy, aged 8 years and 11 months, yellow race, with dyserythropoietic anemia type II, diagnosed at two months of age. Screening for partial form of carbohydrate deficient glycoprotein syndrome was normal. This result did not confirm the publication by Fukuda in 1990.
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Acta médica portuguesa · Apr 1999
[The range of congenital malformations associated with cleft lip and palate].
The congenital malformations associated to cleft lip and cleft palate cover a wide range of pathologies with incidence and acuteness that vary according to the authors. In the 284 patients followed and/or referred to the Cleft Consultation of Dona Estefânia Hospital, 78 had associated malformations (27.5%). In three cases there was consanguinity in parents. ⋯ In what concerns the association of syndromes with the type of cleft, primary, secondary or total palate, those of the secondary were the most frequent, particularly that of the Pierre Robin sequence (S. P. R.)--19 in 36 secondary cleft palate.