Congenital malformations - Edocr

120 PART III CRANIOFACIAL MALFORMATIONS
corresponding higher recurrence risk. The recurrence
risk in cases of choanal atresia with
multiple anomalies depends on the underlying
genetic cause, if any (e.g., chromosome abnormalities,
specific syndromes). Most cases of
CHARGE syndrome (in the absence of other
specifically identified syndrome) are sporadic
or possible new mutations of the CHD7 gene
with a low recurrence risk.
REFERENCES
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R, et al. Mutations in a new member of the chromodomain
gene family cause CHARGE syndrome.
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