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

Affiliations
  • 1Department of Pediatrics, Division of Neonatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. arkim@amc.seoul.kr
  • 2Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Medical Genetics Clinic and Laboratory, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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
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