Tags

Type your tag names separated by a space and hit enter

Fetal and neonatal neurogenetics.
Handb Clin Neurol 2019; 162:105-132HC

Abstract

Disorders of the developing nervous system may be of genetic origin, comprising congenital malformations of spine and brain as well as metabolic or vascular disorders that affect normal brain development. Acquired causes include congenital infections, hypoxic-ischemic or traumatic brain injury, and a number of rare neoplasms. This chapter focuses on the clinical presentation and workup of neurogenetic disorders presenting in the fetal or neonatal period. After a summary of the most frequent clinical presentations, clues from history taking and clinical examination are illustrated with short case reports. This is followed by a discussion of the different tools available for the workup of neurogenetic disorders, including the various genetic techniques with their advantages and disadvantages. The implications of a molecular genetic diagnosis for the patient and family are addressed in the section on counseling. The chapter concludes with a proposed workflow that may help the clinician when confronted with a potential neurogenetic disorder in the fetal or neonatal period.

Authors+Show Affiliations

Pediatric Neurology Unit, Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussel, Belgium. Electronic address: anna.jansen@uzbrussel.be.Centre for Medical Genetics, Universitair Ziekenhuis Brussel, Brussel, Belgium.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31324307

Citation

Jansen, Anna C., and Kathelijn Keymolen. "Fetal and Neonatal Neurogenetics." Handbook of Clinical Neurology, vol. 162, 2019, pp. 105-132.
Jansen AC, Keymolen K. Fetal and neonatal neurogenetics. Handb Clin Neurol. 2019;162:105-132.
Jansen, A. C., & Keymolen, K. (2019). Fetal and neonatal neurogenetics. Handbook of Clinical Neurology, 162, pp. 105-132. doi:10.1016/B978-0-444-64029-1.00005-9.
Jansen AC, Keymolen K. Fetal and Neonatal Neurogenetics. Handb Clin Neurol. 2019;162:105-132. PubMed PMID: 31324307.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fetal and neonatal neurogenetics. AU - Jansen,Anna C, AU - Keymolen,Kathelijn, PY - 2019/7/21/entrez PY - 2019/7/22/pubmed PY - 2019/7/22/medline KW - Agenesis of the corpus callosum KW - Brain malformations KW - Congenital hydrocephalus KW - Counseling KW - Holoprosencephaly KW - Macrocephaly KW - Microcephaly KW - Neural tube defects KW - Neurogenetics KW - Neuronal migration disorders KW - Posterior fossa anomalies SP - 105 EP - 132 JF - Handbook of clinical neurology JO - Handb Clin Neurol VL - 162 N2 - Disorders of the developing nervous system may be of genetic origin, comprising congenital malformations of spine and brain as well as metabolic or vascular disorders that affect normal brain development. Acquired causes include congenital infections, hypoxic-ischemic or traumatic brain injury, and a number of rare neoplasms. This chapter focuses on the clinical presentation and workup of neurogenetic disorders presenting in the fetal or neonatal period. After a summary of the most frequent clinical presentations, clues from history taking and clinical examination are illustrated with short case reports. This is followed by a discussion of the different tools available for the workup of neurogenetic disorders, including the various genetic techniques with their advantages and disadvantages. The implications of a molecular genetic diagnosis for the patient and family are addressed in the section on counseling. The chapter concludes with a proposed workflow that may help the clinician when confronted with a potential neurogenetic disorder in the fetal or neonatal period. SN - 0072-9752 UR - https://www.unboundmedicine.com/medline/citation/31324307/Fetal_and_neonatal_neurogenetics L2 - https://linkinghub.elsevier.com/retrieve/pii/B978-0-444-64029-1.00005-9 DB - PRIME DP - Unbound Medicine ER -