A new autosomal recessive oto-facial syndrome with midline malformations

Two sisters from a Lebanese family presented with slight developmental delay, short stature, congenital microcephaly, frontal bossing, mild hyperplastic supra-orbital ridges, broad nasal root, small dysplastic low-set ears, high arched palate, short neck, and hearing impairment. In addition, the oldest affected sister had esophageal atresia and the other sister had cleft palate. Temporal bone abnormalities included hypoplasia of the external...