Definition
Inheritable disorder of connective tissue
Epidemiology
Male = Female
1 in 5000
Nil geographical variation
Aetiology
AD
Gene
- FNB1
- fibrillin
- chromosome 15
Now diagnosed by genetic studies
Pathology
Fibrillin is a component of elastic fibres
DDx
Homocystinuria
- no FHx
- diagnose via urinalysis
- presents the same way
Ehler Danlos
- very fragile, mobile skin
Stickler's
- mental impairment
Clinical Features
Major criteria
- FHx
- pectus excavatum requiring surgery
- pectus carinatum
- arm span : height ratio > 1.05
- wrist sign (LF and thumb overlap)
- thumb sign (projects past ulna border palm)
- scoliosis > 200
- pes planus
- protrusio
Minor
- pectus excavatum
- minor scoliosis
- thoracic lordosis
- high arch palate
- joint hypermobility
Need 2 major or 1 major / 2 minor
Skeletal
Arachnodactyly
- long fingers and toes
Thumb sign
- protrudes past ulna border palm
Pectus excavatum / carinatum
Ligamentous laxity
- genu valgum
- PFJ instability
Scoliosis
- 60% patients
- right thoracic
- 20% need OT
- complicated by thoracic lordosis
Spondylolithesis
Dural ectasia
Flat feet
- ligamentous laxity
Protrusio
- consider triradiate cartilage fusion
Elbow joint contractures
Extra-skeletal
High arched palate
Lens dislocation
- also short sighted, astigmatism
CVS
- AR, MR
- aneurysm
- dissection
Spontaneous Pneumothorax