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2002-05-30-13 Chondrodysplasia punctata © Suchet www.thefetus.net/


Chondrodysplasia punctata, non-rhizomelic

Ian Suchet, MD, 

Canada

This is a case of non rhizomelic chondrodysplasia punctata with classical stippled epiphysis involving proximal and distal femora. proximal tibia, calcanei and the iliac wings. This was confirmed on post natal X-rays.

This case fits into the Sheffield type of chondrodysplasia punctata on X-ray. The puzzling feature was the irregular premature calcific densities seen anterior to the heart. I was not sure whether this was a bifid sternum of irregular premature costochondral calcifications. No ectopia cordis or pentalogy are present. The sternum appeared normal on postnatal X-rays, although we did not do a CT. Clinically the sternum looks OK . Sherer et.al. (Obstetrics and Gynecology1994;83:858-60) describe a non-rhizomelic form with a prematurely calcified bifid sternum. This may be the case here except there is fibrous union between the two sides.

 

  

  

  

 

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. 

. CAUSES OF PUNCTATE EPIPHYSES

Bone dysplasias 

 

  • Conradi-Hunermann CDP 
  • Rhizomelic CDP
  • Brachytelephalangic type
  • Mesomelic metacarpal type

 

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.

 

Other genetic disorders 

 

  • Zellweger syndrome 
  • Child Syndrome
  • GM-1 gangliosidosis
  • Trisomy 21
  • Trisomy 18
  • De Lange syndrome
  • Smith-Lemli Opitz syndrome

 

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
found in association with congenital deficiency of multiple vitamin-K-dependant coagulation factors.

 

Other conditions acquired in utero

 

  • Fetal Alcohol syndrome (FAS) 
  • Febrile illness
  • Phenacetin intoxication
  • Hydantoin exposure

 

Reference.

1. Poznanski AK. "Punctate epiphyses: a radiological sign not a disease. Pediatric Radiology 1994. 24(6):418-424.

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