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