SKELETAL ABNORMALITIES
The system with the largest variety of clinical manifestations is the skeletal system though scored less in the Ghent nosology compared to cardiovascular or ophthalmologic manifestations. This is likely due to their non-specific nature and the possibility of varied differential diagnoses to explain their presence.
Skeletal abnormalities include craniofacial, ribcage, limb, and vertebral defects with differing levels of impact on the patient. In one study, typical foot deformities such as hindfoot deformities were not limiting compared to controls despite the fact that the cases had longer and narrower feet 22, 23. In the same study, Lindsey et al note however the social limitation of patients with MFS finding well-fitted shoes on account of the associated claw and hammer toes.
Two major chest wall abnormalities have been documented in MFS. Pectus carinatum also called the pigeon chest, is thought to be more specific for MFS 8 and scores higher in the Ghent nosology than the pectus excavatum (funnel chest). The impact of chest wall abnormalities on cardiovascular signs and symptoms in patients with MFS included increased chest pain attributable to mediastinal compression. The significance of this can be evaluated by imaging studies24, 25. For, these patients, however, cosmesis tends to be the more common reason for surgical intervention26.
Scoliosis is the lateral deviation of the vertebra with axial rotation and vertebral body compression 27. Management remains a challenge with outcomes of bracing, (the mainstay and initial treatment option) showing varied outcomes and impact on rates of progression 28-30. Factors that affect the rate of progression rates adversely include earlier age of onset, intolerance of braces, and increases in the rigidity of the curve 31, 32. Surgical interventions are reserved for severe scoliosis.
The usefulness of craniofacial abnormalities in making a diagnosis is subjective, being dependent on the experience of the examiner. These features include enophthalmos, down slanting of the external palpebral fissures compared to the internal, malar hypoplasia, and dolichocephaly (long skull) 33. Other orthodontic abnormalities, not incorporated into the Ghent nosology are a high-arched palate and dental overcrowding.
It is important to note that despite the reduction in the bone mineral density reduction noted in the wrist, hip, and femur of patients with MFS, its impact on the occurrence of fractures is not fully understood.