Craniofrontonasal dysplasia.

The term 'craniofrontonasal dysplasia' (CFND) was introduced by Cohen' in 1979 when describing a 14 year old girl with coronal craniosynostosis, hypertelorism, limitation of shoulder movement, and digital abnormalities. The child's mother was also affected. In the same volume of Birth Defects, Slover and Sujansky2 reported similar findings in three female sibs, both of whose parents had hypertelorism, as did the paternal grandmother. These papers established CFND as a distinct entity. Subsequent reports have expanded the phenotype to include numerous trunk and limb abnormalities.-36 This condition is probably not