Handbook of Genetic Counseling/FG Syndrome-2
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Introduction[edit | edit source]
- Myself, GC, Doc
- What are they expecting today? What concerns do they have?
Contracting[edit | edit source]
- Medical Hx/Pregnancy Hx
- Family Hx
- Physical Exam
- Suggestions for testing/diagnosis
- Answer any questions
Medical History[edit | edit source]
- Hearing test?
- Developmental milestones
- Behavior issues, when did they start? How severe? Examples?
- Has he always been floppy?
Family Hx[edit | edit source]
- Birth defects, MR, cancer at early age, genetic conditions
F-G syndrome[edit | edit source]
- Other names: Opitz-Kaveggia syndrome
- Definition: X-linked condition with the following characteristics
- Hypotonia from birth
- Large head
- Cowlick of frontal hairline
- Sensorineural deafness
- Short stature
- Imperforate anus
- Congenital heart defects
- Broad first toes
- Attention-seeking behaviors
- X-linked recessive
Resources[edit | edit source]
- FG syndrome Family Alliancee
- FAQ's about FG syndrome
Notes[edit | edit source]
The information in this outline was last updated in 2000.