STIPPLED (PUNCTATE)
EPIPHYSIS |
Sonographically, multiple areas of punctata can be seen in the region of the
epiphyses and unossified bones such as the carpals and tarsals. Punctata can
also involve the spine, sacrum, and tracheal cartilages.
Involvement of the vertebral bodies may result in coronal cleft vertebrae where
separate anterior and posterior centers of ossification are separated by a wide
translucent band. Disruption of ossifications centers often results in
retarded growth of involved long bones resulting in asymmetrical limb
shortening, angulation of bone ends, and other deformities. Spinal involvement
may result in severe scoliosis and kyphosis. Tracheal calcification can result
in respiratory complications as the child ages. Puncta usually disappear by 3-5
years of age making diagnosis of the various conditions more difficult.
Secondary signs thus become more important in distinguishing various syndromes.
The groups of bone dysplasias characterized by punctate epiphsyes are
wide-ranging in severity, which likely represents the diverse genetic defects
involved.
. CAUSES OF PUNCTATE EPIPHYSES |
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Bone dysplasias
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Conradi-Hunermann type of CDP has both autosomal dominant and X-linked dominant forms. In addition to limb abnormalities, characteristic facial flattening due to malar hypoplasia, cataracts, and skin lesions are common. A more severe autosomal recessive rhizomelic form associated with peroxisome abnormlities is often fatal in infancy. |
Other genetic
disorders
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Zellweger syndrome (cerebro-hepato-renal syndrome) is another peroxisomal disorder with associated punctata which are found primarily in the patella. Cortical cystic disease is another associated finding. |
Vitamin K Disorders · Warfarin embryopathy · Vitamin K reductase deficiency |
Maternal use of warfarin produces punctate stippling similar to CDP with
additional findings of distal phalangeal shortening, tracheal calcification
and lack of nasal growth. A similar appearance has been |
Other
conditions acquired in utero
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REFERENCES |
1. Poznanski AK. "Punctate epiphyses: a radiological sign not a disease. Pediatric Radiology 1994. 24(6):418-424.