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A case of campomelic dysplasia without sex reversal

Hyoung-Young Kim1, Chong Hyun Yoon, Gu-Hwan Kim

  • 1Department of Pediatrics, Division of Neonatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Journal of Korean Medical Science
|January 11, 2011
PubMed

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.

Keywords:
Campomelic DysplasiaSOX9 Gene

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