J Korean Med Sci.  2011 Jan;26(1):143-145. 10.3346/jkms.2011.26.1.143.

A Case of Campomelic Dysplasia without Sex Reversal

• Kim HY
• Yoon CH
• Kim GH
• Yoo HW
• Lee BS
• Kim KS
• Kim EA

• KMID: 1777990
• DOI: http://doi.org/10.3346/jkms.2011.26.1.143

Abstract

Campomelic dysplasia (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism, is due to mutations in SOX9, a member of the SOX (SRY-related HMG box) gene family. Multiparous mother at 38 weeks' gestation delivered a 3,272 g baby boy with characteristic phenotypes including bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate, and micrognathia. He underwent a tracheostomy at the age of three months for severe laryngomalacia after a number of repeated hospitalizations due to respiratory problems and died at the age of four months from progressive respiratory failure. He was diagnosed as having CD based on a novel frameshift mutation (p.Gln458ArgfsX12) in the SOX9 gene, the mutation which has not yet been reported in Korea.

Keyword

Campomelic Dysplasia; SOX9 Gene

MeSH Terms

Campomelic Dysplasia/*diagnosis/genetics/radiography
Disorders of Sex Development/genetics
Frameshift Mutation
Humans
Infant
Male
Respiratory Insufficiency/complications
SOX9 Transcription Factor/*genetics
Sequence Analysis, DNA

Figure

• 

  Fig. 1 Clinical features of a campomelic dysplasia patient. (A) Pretibial skin dimple (arrow) on the left thigh. (B) Chest radiography shows a bell-shaped, narrow thoracic cage, hypoplastic scapulae and mild T-L scoliosis. (C) Radiograph of bilateral legs shows anterolateral femoral bowing and short fibulae.

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  Fig. 2 DNA sequencing of the SOX9 gene. (A) Normal control. (B) Patient. A novel frameshift mutation (p.Gln458ArgfsX12) was noticed at nucleotide 1372 (circle).

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