title: A case of campomelic dysplasia without sex reversal.
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.
authors.affiliation: Department of Pediatrics, Division of Neonatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Hyoung-Young
authors.initials: HY
authors.lastname: Kim
authors.forename: Chong Hyun
authors.initials: CH
authors.lastname: Yoon
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: Byong Sop
authors.initials: BS
authors.lastname: Lee
authors.forename: Ki Soo
authors.initials: KS
authors.lastname: Kim
authors.forename: Ellen Ai-Rhan
authors.initials: EA
authors.lastname: Kim
mesh_terms: D055036:Campomelic Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D012131:Respiratory Insufficiency / Q000150:complications; D055758:SOX9 Transcription Factor / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D055758:SOX9 Transcription Factor