To know the basic concepts of genetics To understand the etiology of chromosomal and genetic syndromes To know the diversity of multisystemic manifestations in the main genetics diseases To master the evaluation of genetic diseases by different imaging modalities
Genetic disorders has broad clinical spectrum,
some of them share a particular clinical manifestations or associations,
that could confuse or miss direct the physician to give the accurate diagnosis,
even though the definitive diagnosis is genetic testing,
some disorders has sporadic presentation or caused by multiple genetic defects,
that is why the signs,
symptoms and imaging findings can help to identify the genetic disease. It is decisive for the patient to achieve the most accurate...
Findings and procedure details
Down syndrome (Figure 1) Genetic etiology: Is the most common trisomy and also commonest chromosomal disorder, dependent on maternal risk. Incidence 1 : 700-1000 live births,
dependent of implementation of antenatal screening Clinical postnatal features: depressed nasal bridge,
cerebellar and vermian hypoplasia,
Moyamoya syndrome; congenital heart disease 40% (septal defects); anal or duodenal atresia,
omphalocele; eleven ribs,
Molecular biology is the Gold Standard to establish the diagnosisof genetic disorders.
The phenotypic variability could be an obstacle for theclinician,
it is crucial to have in mind the most representative features and those which increase patient morbidity and mortality.
Different imaging techniques are useful for the assessment,
follow-up and therapeutic planning and prognosis.
The physician should know which is the best study for the systematic approach of the patient in order to...
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Eur J Med Genet.
2015 · Hattori,
Prenatal diagnosis of hemifacial microsomia by magnetic resonance imaging.Journal of Perinatal Medicine,
Retrieved 8 Jan.
from doi:10.1515/JPM.2005.012 · Hammarstedt JE et al: Arthroscopic ligamentum teres reconstruction of the hip in Ehlers-Danlos syndrome: a case study.