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.