Craniofrontonasal syndrome (CFNS) is a rare X-linked
genetic disorder which is characterized by coronal
synostosis, widely spaced eyes, a central nasal groove, and various skeletal anomalies. Mutations in the
EFNB1 gene in Xq13.1 are responsible for familial and sporadic cases. In the present study, we aimed to evaluate the clinical characteristics and molecular results of 4 patients with CFNS. Genomic
DNA was extracted from the peripheral blood lymphocytes of all patients and their parents, and Sanger sequencing of the
EFNB1 gene was performed. A novel
EFNB1 gene mutation (c.65delG; p.Cys22SerfsTer24) was detected in a newborn who had only dysmorphic facial features and
bicornuate uterus. The other 3 patients (2 familial cases and 1 sporadic case) shared the same mutation (c.196C>T; p.R66X). However, the clinical features of these patients were highly variable. Additionally, central (meso-axial)
polydactyly and deep palmar creases were detected, which have not been previously reported. CFNS has a wide clinical spectrum, but there is no clear genotype-phenotype correlation. However, central (meso-axial)
polydactyly and deep palmar creases may be part of the clinical spectrum seen in CFNS. In addition, our findings expand the mutational spectrum in patients with CFNS.