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Joseph Junewick, MD FACR
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Chondrodysplasia Puctata

Case Detail

Anatomy: Musculoskeletal
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic or Congenital
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: CR
Activities:
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History

Newborn with dysmorphic features.


Case Images


Diagnosis

Chondrodysplasia punctata, brachytelephalangic type

Findings

Short distal phalanges with narrow bases (inverted triangle appearance).
Numerous puncta of spine and larynx; scattered puncta of epiphyses.

Discussion

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.

Reference

Spranger JW, Brill PW and Poznanski AK. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development 2nd Ed. Oxford Press. 2002.



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