Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of our patients, dysmorphic craniofacial features, microcephaly, thumb abnormalities, psychomotor and speech delay were described. In addition, among other major defects, esophageal atresia (EA) in one patient and choanal atresia in two of them were present. Three different mutations in EFTUD2 gene were found in presented patients. Our observations confirm the clinical heterogeneity of mandibulofacial dysostosis type Guion-Almeida and its connection with major congenital defects such as esophageal atresia and choanal atresia.