Causes of Congenital Malformations
Congenital malformations are structural abnormalities due to faulty development, present at birth, and among the major causes of prenatal, perinatal and infant mortality and morbidity. They include gross and microscopic malformations, inborn errors of met
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Causes of Congenital Malformations Martin Lammens, John M.G. van Vugt, Michèl Willemsen, Patrick van der Voorn, Hans van Bokhoven, and Hans J. ten Donkelaar
Contents 3.1
Introduction ....................................................................... 105
3.2 Causes of Congenital Malformations .............................. 3.2.1 Genetic Disorders ................................................................ Clinical Case 3.1. Meckel-Gruber Syndrome ..................... 3.2.2 Environmental Causes ......................................................... Clinical Case 3.2. Cytomegalovirus Encephalopathy ......... Clinical Case 3.3. Amnion Rupture Sequence ....................
106 106 113 114 118 119
3.3 Prenatal Diagnosis ............................................................. 3.3.1 Ultrasound and Magnetic Resonance Examination ............ 3.3.2 Invasive Tests ...................................................................... Clinical Case 3.4. Traumatic Amniocentesis ...................... 3.3.3 Genetic Diagnosis ...............................................................
120 121 126 128 129
3.4 3.4.1
3.4.2 Multisystem Disorders with CNS Involvement .................. Clinical Case 3.5. Congenital Disorders of Glycosylation .................................................................. Clinical Case 3.6. Walker-Warburg Syndrome ................... Clinical Case 3.7. Zellweger Syndrome ..............................
135 136 137
3.5
139
3.6
Inborn Errors of Metabolism Affecting the CNS ........... 130 Inborn Errors of Metabolism That Mainly Affect the CNS..... 131
M. Lammens, M.D., Ph.D. Department of Pathology, University Hospital Antwerpen, Wilrijkstraat 10, Edegem B-2650, Belgium J.M.G. van Vugt, M.D., Ph.D. 791 Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, 9101, Nijmegen 6500 HB, The Netherlands M. Willemsen, M.D., Ph.D. 935 Department of Child Neurology, Radboud University Nijmegen Medical Centre, 9101, Nijmegen 6500 HB, The Netherlands P. van der Voorn, M.D., Ph.D. Department of Pathology, VU University Medical Centre, 7057, Amsterdam 1007 MB, The Netherlands H. van Bokhoven, Ph.D. 855 Department of Human Genetics, Radboud University Nijmegen Medical Centre, 9101, Nijmegen 6500 HB, The Netherlands H.J. ten Donkelaar, M.D., Ph.D. () 935 Department of Neurology, Radboud University Nijmegen Medical Centre, 9101, Nijmegen 6500 HB, The Netherlands e-mail: [email protected], [email protected]
Myelination Disorders ...................................................... Clinical Case 3.8. Histopathological Correlates of Radial Stripes on MR Images in Lysosomal Storage Disorders ................................................................ Clinical Case 3.9. X-Linked Adrenoleukodystrophy .......... Clinical Case 3.10. Vanishing White Matter Disease ......... Vascular Disorders ............................................................ Clinical Case 3.11. Porencephaly........................................ Clinica
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