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KMID : 1039920200270040197
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Neonatal Medicine
2020 Volume.27 No. 4 p.197 ~ p.201
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Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation
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Lee Ha-Na
Kim Chae-Young
Jung Eui-Seok
Lee Beom-Hee
Lee Byong-Sop
Kim Ai-Rhan
Kim Ki-Soo
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Abstract
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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.
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KEYWORD
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Campomelic dysplasia, SOX9 gene, Cleft palate
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