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KMID : 0191120110260010143
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Journal of Korean Medical Science
2011 Volume.26 No. 1 p.143 ~ p.145
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A Case of Campomelic Dysplasia without Sex Revers
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Kim Hyoung-Young
Yoon Chong-Hyun
Kim Gu-Hwan
Yoo Han-Wook
Lee Byong-Sop
Kim Ki-Soo
Kim Ellen Ai-Rhan
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Abstract
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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.
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KEYWORD
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Campomelic Dysplasia, SOX9 Gene
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