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Cognitive and behavioral heterogeneity in genetic syndromes
(Soc Brasil PediatriaRio De Janeiro, RjBrasil, 2014)
Sinking skin flap syndrome with delayed dysautonomic syndrome - An atypical presentation
(2013-10-14)
INTRODUCTION Sinking skin flap syndrome or syndrome of the trephined is a rare complication after a large craniectomy, with a sunken skin above the bone defect with neurological symptoms such as severe headache, mental ...
Sinking skin flap syndrome with delayed dysautonomic syndrome - An atypical presentation
(2013-10-14)
INTRODUCTION Sinking skin flap syndrome or syndrome of the trephined is a rare complication after a large craniectomy, with a sunken skin above the bone defect with neurological symptoms such as severe headache, mental ...
FG syndrome in a Brazilian child with additional previously unreported signs.
(1986-12-01)
We report on a Brazilian child with typical manifestations of the FG syndrome. Pigmentary dysplasia, metacarpal fusion and peculiar anatomopathological findings are additional undescribed signs.
Oral presentation of 10 patients with Cowden syndrome
(Elsevier Science IncNew YorkEUA, 2014)
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia microphthalmia, and genitourinary anomalies: nosology of goltz-gorlin syndrome versus eec syndrome
(Wiley-Blackwell, 1992-02-01)
We report on two unrelated Brazilian girls born to normal and nonconsanguineous parents and presenting ectodermal dysplasia, ectrodactyly, clefting, tear duct anomalies, and micro/anophthalmia. The clinical picture presented ...