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
Physical Exam
Growth patterns: height, weight, and head circumference
Skull contour and symmetry
Hair texture and pattern
Neck: webbing, redundant skin
Face: compare with siblings and parents
Ears: structure, size, placement, rotation
Eyes: distance apart, eyebrows, eyelashes, folds or creases, coloboma, fundus
Nose: nasal bridge, nostrils
Philtrum: length and shape
Mouth: lips, palate, tongue, teeth
Chin: size and position
Thorax: shape, size, nipple spacing
Hands and Feet: creases, structure, nails
Limbs: proportions
Spine: scoliosis, kyphosis
Genitalia
Skin: hair tufts, sacral dimples
Investigations
- lab investigations
- diagnostic imaging
Lab Investigations
Chromosomal studies
Biochemistry for specific conditions
Genetic probes
- Fragile X
- microdeletion 22
Diagnostic Imaging
X-rays to assess bony abnormalities
Management
Prenatal counselling, recurrence risk assessment
Pathophysiology
Resources and References
Topic Development
created: DLP, Aug 09
authors: DLP, Aug 09
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