Dysmorphic Child
last authored: Oct 2009, David LaPierre
Introduction
Of all live births, 1% have a monogenetic disease, 0.5% have a chromosomal disorder, and 1-3% have a polygenic condition.
Genetic disorders are the most common cause of infant death in the developed world.
The Case of...
Differential Diagnosis
VACTERL
CHARGE
- coloboma
- congenital Heart disease
- choanal Atresia
- mental Retardation
- Genitourinary anomalies
- Ear anomalies
History and Physical Exam
- history
- physical exam
History
Prenatal and obstetric history
Complete pedigree: consanguinity, ethnicity, multiple miscarriages, stillbirths, neonatal deaths, specific illnesses, mental retardation
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Chromosomal studies
Biochemistry for specific conditions
Genetic probes
- Fragile X
- microdeletion 22
Management
Prenatal counselling, recurrence risk assessment
Pathophysiology
Resources and References
Topic Development
created: DLP, Aug 09
authors: DLP, Aug 09
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