Abstract To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth [ncbi.nlm.nih.gov]

PURPOSE: To determine whether the ratio of optic disk diameter to disk-to-macula distance (DD/DM) in children with optic nerve hypoplasia (ONH) changes over time. [ncbi.nlm.nih.gov]

Other associated signs were rhinolalia, hypotrophy and fasciculations of the tongue and cardiomyopathy. We differentiate the condition from a number of hereditary ataxias and paraplegias. [ncbi.nlm.nih.gov]

It is the cutaneous manifestation of another phakomatosis, characterized by neurologic, ophthalmic, cardiovascular, skeletal, and urogenital involvement. [ncbi.nlm.nih.gov]

Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural hearing loss, and developmental delay. [ncbi.nlm.nih.gov]