Hallermann-Streiff syndrome associated with sclerocornea, aniridia, and a chromosomal abnormality.
An infant with the features of Hallermann-Streiff syndrome also had the previously unreported ocular signs of sclerocornea, buphthalmos, congenital glaucoma, and aniridia. Chromosome analysis revealed an elongation of one of the arms of the tenth chromosome. The infant was the product of a consanguinous marriage between distant cousins and a distant cousin of the patient also had the typical features of the Hallermann-Streiff syndrome.
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000150:complications*; D025063:Chromosome Disorders; D002906:Chromosomes, Human, 6-12 and X; D003241:Consanguinity; D003315:Cornea / Q000002:abnormalities*; D016039:Corneal Transplantation; D005260:Female; D006210:Hallermann's Syndrome / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications*; D010375:Pedigree; D012590:Sclera / Q000002:abnormalities*; D014184:Transplantation, Homologous