Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability

Abstract

We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and duplicated halluces. Their facial morphology was unusual: thick eyebrows, ptosis, full eyelashes, long palpebral fissures, downslanting palpebral fissures, small mouth, and low-set, posteriorly rotated ears. This phenotype does not meet the diagnostic criteria of any known entity. Because of parental consanguinity, absence of manifestations in parents, and occurrence in sibs of opposite sex, an autosomal recessive pattern of inheritance is likely.