SciELO - Scientific Electronic Library Online

 
vol.69 issue1  suppl.1Subependymal nodules-subependymal giant cell astrocytoma complex in children with tuberous sclerosisUpdating neonatal neurometabolic screening author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

  • Have no cited articlesCited by SciELO

Related links

  • Have no similar articlesSimilars in SciELO

Share


Medicina (Buenos Aires)

Print version ISSN 0025-7680On-line version ISSN 1669-9106

Abstract

RUGGIERI, Víctor L.  and  ARBERAS, Claudia l.. Genetic syndromes recognizable in the neonatal period. Medicina (B. Aires) [online]. 2009, vol.69, n.1, suppl.1, pp.15-35. ISSN 0025-7680.

The presence of a neonatal neurological lesion associated or not with dysmorphism or with a particular phenotype can be caused by a) prenatal infections (Group TORCH) toxic or teratotoxic agents (alcohol, cocain, antiepileptics, inhalants such as toluene, etc.), vascular defects or genetic anomalies; b) perinatal isquemic hypoxic lesions, infectious or metabolic disorders, etc. In this paper we analyze all entities of genetic origin neonatally recognizable by their phenotype which must be included in the differential diagnosis of all children neurologically compromised. In order to simplify the diagnosis, these entities will be divided according to the prevalence of the phenotype present at birth, dividing them into two large groups: 1) Genic alterations which include: Syndromes with characteristic facies and member malformations, Supra growth syndrome, Syndrome with neonatal growth deficit, Neuro-ectodermic syndromes, Syndromes with characteristic facies and ocular compromise, Syndromes with characteristic facies including those that bear MIM number, and 2) Chromosomal alterations (autosomal in number, mosaic, deletion, and sex chromosomes). The detection of these anomalies through phenotype studies involving congenital encephalopathies of genetic origin is of major importance because it will permit the orientation of specific diagnostic studies, the prevention of difficult and expensive maneuvers, and furthermore, it will offer adequate family counseling and control eventual complications.

Keywords : Genetic syndromes; Congenital malformations; Chromosome alterations; Dysmorphism; Mental retardation.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )

 

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License