Heather Borders, MD
over 5 years ago
Please choose a workflow. A standard workflow allows you to browse the repository with full case detail; the academic workflow allows you to browse the repository with limited case detail revealed. Double click on the images to launch image viewer.
Joseph Junewick, MD FACR
|Diagnostic Category: Genetic or Congenital
|Created: over 7 years ago
|Updated: over 7 years ago
Newborn with dysmorphic features.
Chondrodysplasia punctata, brachytelephalangic type
Short distal phalanges with narrow bases (inverted triangle appearance).
Numerous puncta of spine and larynx; scattered puncta of epiphyses.
Puncta are small calcifications associated with ossification centers of the spine and long bones and occasionally other cartilaginous areas such as the larynx. Most often these are seen in chondrodysplasia syndromes but can also be seen with warfarin embryopathy, alcohol embryopathy, hydantoin embryopathy, rubella, febrile illnesses, maternal diabetes, maternal lupus and other syndromes.
Puncta are associated with growth retardation of the affected bones; laryngeal puncta are prone to develop respiratory distress. Puncta usually disappear by 3 to 5 years of age.
Skeletal dysplasias associated with stippling or fragemented ossification include Greenberg dysplasia (AR), dappled diaphyseal dysplasia (AR), chondrodysplasia punctata rhizomelic type (AR) , Zellweger syndrome (AR), chondrodysplasia punctata Conradi-Hunermann type (XLD), chondrodysplasia punctata brachytelephalangic type (XLR), chondrodysplasia punctata tibial-metacarpal type (?AD), vitamin K dependent coagulation defect (AR).
Chondrodysplasia punctata brachytelephalangic type generally has a favorable prognosis and is not associated with cataracts, contractures or skin changes.
Spranger JW, Brill PW and Poznanski AK. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 2nd Ed. Oxford Press. 2002.