Clinical Dysmorphology · 1996 · 17 citations · 0 references
MedicineGeneticsPediatricsHuman GeneticsOcular DiseaseOcular GeneticsCongenital Eye AnomaliesDevelopmental Disorders Of VisionIris DiseaseIris DisordersPediatric Eye DiseasePediatric Retinal DisordersCongenital Iris HypoplasiaOphthalmic ManifestationsSmith-magenis Syndrome
A boy who presented with iris dysgenesis is described. He was shown to have Smith-Magenis syndrome with a deletion of 17p11.2.