for orthodontist

1. MARFAN SYNDROME
https://youtu.be/NSKgbFGqFDo
 Genetic disorder of connective tissue.
 autosomal dominant condition with a reported incidence of 1 in 3000 to 5000
individuals [1,2].
 M=F
 Autosomal dominant. 75% cases inherited and 25% new mutation.
 mutations involving the gene (FBN1) encoding the connective tissue protein fibrillin-
1 [5-7].
 Diagnosis is based on the Ghent criteria:
Ghent criteria
 A panel of experts in Ghent, Belgium, put forth a set of guidelines in 1996
 Named for the city in which they were proposed, the Ghent criteria delineate major
and minor diagnostic findings.
 This combination of findings in different organ systems forms the mainstay of
diagnosis.
 The main criteria for diagnosis consist of clinical features that are typical of the
syndrome and rarely occur in the general population. These include long limbs,
scoliosis, pectus carinatum, pectus excavatum, ectopia lentis, dilatation and/or
dissection of ascending aorta, aortic regurgitation, and dural ectasias.
 Minor criteria are present in individuals with the syndrome and often are seen in the
general population. These include joint hypermobility, high palate, dolichocephaly,
retrognathia, flat cornea, mitral valve prolapse, dilatation or dissection of the thoracic
aorta, spontaneous pneumothorax, and recurrent hernias.
 In the presence of a nonsignificant family history, major criteria in at least two
different organ systems and involvement of a third system are required. However, if
evidence of a genetic mutation in the family is found, then one major criterion in an
organ system and involvement of a second system are sufficient to establish a
diagnosis of Marfan syndrome.

2. Signs and Symptoms
1. Skeletal
 Elongated head with cerebral bosselation.
 Tall and thin person
 Long arms and legs and fingers and toes.
 Flexible joints and scoliosis.
 Early osteoarthritis can occur
 Joint, bone and muscle pains.
2. Cardiac

3.  Heart and aorta with increased risk of mitral valve prolapse and aortic aneurysm.
 Pectus carinatum
3. Eye
 Retinal detachment in the eye and also cataracts.
4. Jaw
 Sleep apnoea.
 downslanting palpebral fissures
 malar hypoplasia,
 High palate
 Retrognathia,
 Big overjets,
 Posterior crossbites,
 AOB
 Crowding.
Treatment:
 no cure.
 Most people have a normal life with proper treatment.
 Mainly beta blockers (e.g. propanolol) or calcium channel blockers or ACE inhibitors.
 Surgery may be needed on heart valves.
 Must keep exercise/stress levels low e.g. play bowling/golf

4.  Genetic testing: First-degree relatives of patients with a gene mutation associated with
aortic aneurysms and/or dissection (eg, FBN1, TGFBR1, TGFBR2, COL3A1,
ACTA2, MYH11) should undergo counseling and genetic testing.
Orthodontic:
 Need for good oral hygiene
 Need for prophylactic antibiotics prescribed before banding.
 High risk of OIIRR
 High risk of relapse orthodontic (fibrillin) and surgically,
 High risk of condylar resorption
 Need orthognathic surgery or SARPE
Monitoringgrowth:
 Cephs
 Standingheight
 Photos/studymodelstomonitorchangesinAOB
 C spine maturation- Baccetti