Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations.


The phenotype and pattern of inheritance of craniofrontonasal dysplasia were analyzed in 66 affected persons from 18 families, including one four-generation kindred personally studied. Females were more severely affected than males. Affected females had hypertelorism, broad nasal root, frontal bossing, craniosynostosis, syndactyly of toes and fingers, and… (More)


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