100 Clinical Results associated with Gangliosidosis, Generalized GM1, Type I, With Cardiac Involvement
100 Translational Medicine associated with Gangliosidosis, Generalized GM1, Type I, With Cardiac Involvement
0 Patents (Medical) associated with Gangliosidosis, Generalized GM1, Type I, With Cardiac Involvement
01 Nov 1995·Acta PaediatricaQ4 · MEDICINE
Clinical and immunohistochemical findings in a case of neonatal Marfan syndrome
Q4 · MEDICINE
Article
Author: I Hägerstrand ; U Kristoffersson ; G Björkhem ; K Hanséus ; K Dahlbäck ; L M Lundberg
A newborn girl with extreme cardiomegaly discovered by fetal ultrasound after 34 gestational weeks is presented. The girl was delivered through a Caesarean section. After birth, multiple skeletal stigmata and generalized cardiac involvement with abnormal valves and dilated great arteries suggested Marfan syndrome. The girl died at the age of 10 h. The postmortem examinations showed cardiovascular lesions typical of Marfan syndrome. Immunofluorescence studies from cultured fibroblasts of the patient showed decreased amounts of immunostained fibrous material, supporting the clinical diagnosis of a severe Marfan syndrome.