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2017-01-22  Campomelic dysplasia  © Peter Conner  www.TheFetus.net

Campomelic dysplasia
Peter Conner, MD.
Karolinska University Hospital, Stockholm, Sweden.


Case report

Campomelic dysplasia is always a differential diagnosis in a skeletal dysplasia case. Following images are from an IVF pregnancy (19 weeks) and revealed micromelic dysplasia, all bones 3 weeks shorter than expected, angulated femur, slight demineralized skull, cervical lordosis, micrognathia, flat nose, nuchal edema, narrow thorax, bilateral talipes and absent scapulae.
G
enetic studies after birth found a SOX-9 mutation confirming our suspicion of campomelic dysplasia.


  

 
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