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

• Lee HN
• Kim CY
• Jung E
• Lee BH
• Lee BS
• Kim EAR
• Kim KS

• KMID: 2510826
• DOI: http://doi.org/10.5385/nm.2020.27.4.197

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.

Keyword

Campomelic dysplasia; SOX9 gene; Cleft palate

Figure

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  Figure 1. Radiographic examinations of the study patient showing (A) bowing of both femurs, (B) metatarsus adductus in both feet, and (C) 11 pairs of ribs and a bell-shaped thoracic cage.

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  Figure 2. Sequencing analysis of the SOX9 gene in the study patient identified a c.235del(C) heterozygous deletion mutation in exon 1, leading to a premature termination at codon 235.

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