title: Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: a new syndrome?
abstract: Two sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D003316:Corneal Diseases / Q000151:congenital / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D003937:Diagnosis, Differential; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D000699:Pain Insensitivity, Congenital / Q000235:genetics; D012160:Retina / Q000002:abnormalities; D013577:Syndrome