Diaphysis (Long Bones): Alterations in Shaft Width


Diaphysis (Long Bones): Alterations in Shaft Width

Slender Diaphysis

Neuromuscular and soft-tissue diseases lead to skeletal atrophy with osteopenia.

Table 5.55 Diaphysis—overtubulation: slender, thin, and gracile bones





Bones are not dysplastic. Bone demineralization and dislocation of large joints.

Heterogeneous group of diseases that are all characterized clinically by joint contractures already evident at birth. Muscle weakness and fibrosis.

Spinal muscular atrophy

Slender long bones, increased height of vertebral bodies, and bell-shaped chest.

Cardinal feature is proximal muscle weakness due to degeneration of motor neurons. Childhood and adult onset forms. Molecular characterization has led to subtypes (e.g., 1–4).

Osteogenesis imperfecta

Slender long bones and osteopenia with frequent fractures.

Defect in connective tissue usually due to deficiency of type-1 collagen. Types I through VIII have different age of onset and severity. Type II fatal, type IV normal color of sclera.

Marfan syndrome

Scoliosis is common. Ascending aortic aneurysm and dissection are major findings

Long fingers and toes (arachnodactyly).

Caudal regression sequence

Aplasia-hypoplasia of the sacrum with hypoplasia of the lower extremities, at the extreme sirenomelia.


Autosomal recessive trait; cystathionine beta synthase deficiency.

Schwartz-Jampel syndrome

Short stature, myotonic myopathy, and dystrophy of epiphyseal cartilage.

Cockayne syndrome

Decreased intramedullary space of the long bones, vertebrae, skull, and pelvis. Disproportionately long limbs and joint contractures.

Short stature, mental retardation, retinal atrophy, cataracts, and hearing loss. Shows overlap with xeroderma pigmentosum, another disorder caused by defective deoxyribonucleic acid repair.

Hallermann-Streiff syndrome

Birdlike facies with hypoplastic mandible and beaked nose, proportionate dwarfism, hypotrichosis, microphthalmia, and congenital cataracts.

Diaphyseal tubular narrowing (Kenny-Caffey syndrome)

Characteristic cortical thickening and intramedullary stenosis of the long bones.

Hypocalcemia and hypoparathyroidism.

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Jul 12, 2020 | Posted by in PEDIATRIC IMAGING | Comments Off on Diaphysis (Long Bones): Alterations in Shaft Width

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