Neonatal Medicine

The Korean Society of Neonatology (대한신생아학회)
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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation

  • Lee, Ha Na (Department of Pediatrics, Asan Medical Center Children's Hospital) ;
  • Kim, Chae Young (Department of Pediatrics, Kyung Hee University Hospital at Gangdong) ;
  • Jung, Euiseok (Department of Pediatrics, Asan Medical Center Children's Hospital) ;
  • Lee, Beom Hee (Department of Pediatrics, Asan Medical Center Children's Hospital) ;
  • Lee, Byong Sop (Department of Pediatrics, Asan Medical Center Children's Hospital) ;
  • Kim, Ellen Ai Rhan (Department of Pediatrics, Asan Medical Center Children's Hospital) ;
  • Kim, Ki-Soo (Department of Pediatrics, Asan Medical Center Children's Hospital)
  • Received : 2020.07.24
  • Accepted : 2020.09.06
  • Published : 2020.11.30
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Abstract

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.

Keywords

References

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