Term newborn with microphthalmia, encephalocele and linear skin defect

Abstract

The presence of skin and ocular findings includes syndromes with X linked transmission, such as microphthalmia with linear skin defects (MLS) syndrome, focal dermal hypoplasia (Goltz syndrome), oculocerebrocutaneous syndrome, incontinentia pigmenti and Aicardi syndrome. We report the case of a term neonate with corneal opacities and unusual skin findings along with an encephalocele consistent with MLS syndrome.