Clinical and biochemical characterization of a CDG-I patient with fetal akinesia (Contributo in atti di convegno)

Type
Label
  • Clinical and biochemical characterization of a CDG-I patient with fetal akinesia (Contributo in atti di convegno) (literal)
Anno
  • 2011-01-01T00:00:00+01:00 (literal)
Alternative label
  • L.Sturiale, R.Barone, L.Keldermans, A.Fiumara, M.Falchi, R.Guerrini, M.A.Donati, G.Matthijs, D.Garozzo (2011)
    Clinical and biochemical characterization of a CDG-I patient with fetal akinesia
    in 4th International Meeting on Congenital Disorders of Glycosylation, Leuven, Belgium
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • L.Sturiale, R.Barone, L.Keldermans, A.Fiumara, M.Falchi, R.Guerrini, M.A.Donati, G.Matthijs, D.Garozzo (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note
  • 13-14 January 2011 , 49 (2011) (Conference Proceeding -Poster) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Abstract: This work reports on clinical and biochemical characterization of a CDG-I patient with arthrogryposis and developmental anomalies (fetal akinesia). Clinical data: the patient was born pre-term (34 weeks) to healthy unrelated parents, after a pregnancy complicated with intrauterine growth restriction between 20 and 32 weeks and decreased intrauterine fetal movement. At birth she had severe hypotonia, distinct facial features and multiple congenital contractures (arthrogryposis). Since the age 2 months she manifested drug-resistant epilepsy. At age 8 months microcephaly (OFC: 41 cm), severe and progressive kyphoscoliosis with thoracal deformity were recorded. There were absent psychomotor development, no visual fixation, axial hypotonia and reduction of active limb movements with normoactive deep tendon reflexes. Moderate hepatomegaly. Developmental anomalies included simplified gyral pattern and cerebellar hypoplasia. Laboratory investigations (age 8 months): increased serum transaminases levels (SGOT 106 IU/l, SGPT 103 IU/l). Blood CK levels, clotting times, plasma FVIII levels, thyroid hormones, karyotype, array CGH: normal. (literal)
Titolo
  • Clinical and biochemical characterization of a CDG-I patient with fetal akinesia (literal)
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