Esophageal atresia (EA) and mandibulofacial dysostosis (MFD) are two congenital malformations which can be part of syndromic conditions, for which several genes have recently been identified. In particular, changes within the EFTUD2 gene, located on the long arm of chromosome 17, have been found in patients presenting with MFD and microcephaly. Until now, no syndrome associating both MFD and EA has been clearly delineated.
We report on 10 cases presenting with MFD, 8 of whom also had EA, either due to de novo 17q21.31 deletions encompassing EFTUD2 or de novo heterozygous EFTUD2 mutations. These data broaden the spectrum of clinical features ascribed to EFTUD2 changes, define a novel syndromic EA entity and suggest a wide range of differential diagnoses. (By Muriel Holder, http://jmg.bmj.com/content/49/12/737 )