[ syndrome resemble to CODAS: the first reported Iranian girl]

ABSTRACT

CODAS is a syndrome consisting of cerebral, ocular, dental, auricular, and skeletal abnormalities. Patients with this syndrome have psychomotor delay, mental retardation, generalized hypotonia, cataract, ptosis, abnormally shaped teeth, malformed ears, deafness, grooved nasal tip, radiological findings of spondylo-epiphyseal dysplasia, with delayed skeletal maturation and coronal vertebral clefts and short stature. We report on an Iranian girl with features resembling CODAS syndrome. She presented with facial dysmorphism, cataract, abnormally shaped teeth, malformed ear, radiological findings of metaphysio-epiphyseal dysplasia and growth and developmental delay. The underlying defect responsible for CODAS syndrome remains unknown. Many of the features suggest a possible underlying collagen gene defect. The fact that this child is the product of consanguineous marriage suggests the possibility of autosomal recessive inheritance