Engelsk titel: Molecular diagnosis of CHARGE syndrom
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Författare:
Bisgaard Pedersen AM
;
Skovby F
Email: anne-marie.bisgaard.pedersen@rh.hosp.dk
Språk: Dan
Antal referenser: 34
Dokumenttyp:
Översikt
UI-nummer: 07021816
Sammanfattning
CHARGE (coloboma, heart defects, atresia choanae, retarded growth and development, genital anomalies, ear anomalies) is a genetically heterogeneous syndrome in which CHD7 (chromodomain helicase DNA-binding protein 7) mutations account for about 60% of the cases. There is no obvious genotype-phenotype correlation but the majority of the patients fulfils the diagnostic criteria previously proposed. CHARGE syndrome should be considered in children with facial asymmetry, colobomas or choanal atresia; ear abnormalities are of great diagnostic value.