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Craniofrontonasal syndrome (CFNS, MIM 304110) is an X-linked craniofacial disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Mutations have been identified in the EFNB1 gene that encodes a member of the ephrin-B family of transmembrane ligands for Eph receptor tyrosine kinases. Here, we describe two unrelated families, in both of which a mother and her son have proven mutations in EFNB1. The mothers have classical features of CFNS; although the sons have no major craniofacial features other than telecanthus, both had a congenital diaphragmatic hernia (CDH). Our cases represent the first in which CDH has been confirmed in males with mutations in EFNB1, highlighting an important role for signalling by ephrin-B1 in the development of the diaphragm.

Original publication




Journal article


Eur J Hum Genet

Publication Date





884 - 887


Abnormalities, Multiple, Child, Preschool, Craniofacial Abnormalities, Ephrin-B1, Female, Genetic Diseases, X-Linked, Hernia, Diaphragmatic, Hernias, Diaphragmatic, Congenital, Humans, Infant, Newborn, Male, Phenotype, Syndrome