Neonatal Med.  2020 Nov;27(4):197-201. 10.5385/nm.2020.27.4.197.

Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

  • 1Department of Pediatrics, Asan Medical Center Children’s Hospital, Seoul, Korea
  • 2Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, Korea
  • 3Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea


Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia. This child was born with a weight of 3.12 kg after 37 weeks of gestation. She exhibited a number of characteristic features including a small thoracic cage, bowing of both femurs, clubbed feet, hypoplastic scapula, 11 pairs of ribs, a bell-shaped narrow thorax, micrognathia, macroglossia, a cleft palate, a flattened nasal bridge, and low set ears. She experienced additional distress because of the presence of a tracheal ring and because she had tracheomalacia. CD was diagnosed through nucleotide sequence analysis. A frameshift mutation, c.235delC (p.Gln79Argfs*31), was identified in the SOX9 gene that has not previously been reported.


Campomelic dysplasia; SOX9 gene; Cleft palate
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