Type:
Educational Exhibit
Keywords:
Musculoskeletal system, Paediatric, Conventional radiography, CT, MR, Diagnostic procedure, Computer Applications-Detection, diagnosis, Connective tissue disorders, Congenital, Metabolic disorders
Authors:
G. Ilangovan1, L. KUMAR2; 1Chennai, TA/IN, 2Chennai/IN
DOI:
10.26044/ecr2019/C-1043
Findings and procedure details
The most important radiological manifestations of mucoplysaccharidosis occurs in the skeletal system which includes both the axial and the appendicular skeleton which is collectively called as multiplex dysostosis (TABLE 2) (15).
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Dysostosis multiplex
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Skull
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Macrocephaly with dolicocephaly,
Vertical frontal crest,
Abnormal J-shaped sella turcica,
thickened cortical bone,
Lack of pneumatization of mastoid and paranasal sinuses,
Obtuse mandibular angle with prognathism,
widely spaced teeth
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Thorax
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Paddle-shaped or oar-shaped ribs,
Short and thickened clavicles
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Spine
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Atlantoaxial instability,
stenosis and compression of the spinal cord at the Craniovertebral junction,
Thoracolumbar spine shows gibbus and malformations of the vertebral bodies
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Pelvis
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Rounded iliac wings,
inferior tapering of the ileum,
hip dysplasia,
poorly developed acetabulum,
underdevelopment of the medial portion of the proximal femoral epiphysis,
Coxa valga
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Long bones
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Mildly hypoplastic epiphyses,
proximal humeral notching,
long and narrow femoral neck,
genu valgum
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Hands and feet
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V-shaped deformity of the distal ulna and radius,
hypoplastic and irregularly shaped carpal and tarsal bones,
proximal pointed metacarpals and metatarsals,
bullet-shaped phalanges
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