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Articles » Skeletal » Campomelic dysplasia
2017-01-22  Campomelic dysplasia  © Peter Conner

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.
enetic studies after birth found a SOX-9 mutation confirming our suspicion of campomelic dysplasia.


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