Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
- Author:
Ha Na LEE
1
;
Chae Young KIM
;
Euiseok JUNG
;
Beom Hee LEE
;
Byong Sop LEE
;
Ellen Ai Rhan KIM
;
Ki-Soo KIM
Author Information
- Publication Type:Case Report
- From:Neonatal Medicine 2020;27(4):197-201
- CountryRepublic of Korea
- Language:English
- 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.
