Differential diagnosis of Stippled (Punctate) Epiphysis
Sonographically, multiple areas of punctiform calcifications can be seen in the region of the epiphyses and unossified bones such as the carpals and tarsals bones. 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 epiphyses are wide-ranging in severity, which likely represents the diverse genetic defects involved.
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. CAUSES OF PUNCTATE EPIPHYSES
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Bone dysplasias
- Conradi-Hunermann CDP
- Rhizomelic CDP
- Brachytelephalangic type
- Mesomelic metacarpal type
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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 abnormalities is often fatal in infancy.
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Other genetic disorders - Zellweger syndrome
- Child Syndrome
- GM-1 gangliosidosis
- Trisomy 21
- Trisomy 18
- De Lange syndrome
- Smith-Lemli Opitz syndrome
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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.
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Vitamin K Disorders · Warfarin embryopathy · Vitamin K reductase deficiency
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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
found in association with congenital deficiency of multiple vitamin-K-dependant coagulation factors.
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Other conditions acquired in utero - Fetal Alcohol syndrome (FAS)
- Febrile illness
- Phenacetin intoxication
- Hydantoin exposure
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Reference.
1. Poznanski AK. "Punctate epiphyses: a radiological sign not a disease. Pediatric Radiology 1994. 24(6):418-424.