A Case of Campomelic Dysplasia without Sex Reversal
Journal of Korean Medical Science
;
: 143-145, 2011.
Article
in English
| WPRIM
| ID: wpr-211267
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Respiratory Insufficiency
/
Disorders of Sex Development
/
Frameshift Mutation
/
Sequence Analysis, DNA
/
Campomelic Dysplasia
/
SOX9 Transcription Factor
Limits:
Humans
/
Infant
/
Male
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2011
Type:
Article
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