A Case of Campomelic Dysplasia without Sex Reversal.
10.3346/jkms.2011.26.1.143
- Author:
Hyoung Young KIM
1
;
Chong Hyun YOON
;
Gu Hwan KIM
;
Han Wook YOO
;
Byong Sop LEE
;
Ki Soo KIM
;
Ellen Ai Rhan KIM
Author Information
1. Department of Pediatrics, Division of Neonatology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. arkim@amc.seoul.kr
- Publication Type:Case Report
- Keywords:
Campomelic Dysplasia;
SOX9 Gene
- MeSH:
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
- From:Journal of Korean Medical Science
2011;26(1):143-145
- CountryRepublic of Korea
- Language:English
-
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.
