title: A report of an apparent new genetic syndrome consisting of joint contractures, keloids, large optic cup-to-disc ratio and renal stones.
abstract: We report on a family with an apparently undescribed syndrome involving joint contractures, keloids, an increased optic cup-to-disc ratio, and renal stones. The propositus presented at 9 years of age with congenital contractures of his distal interphalangeal (DIP) joints, progressive stiffness of the shoulders and neck, a large optic cup-to-disc ratio, and mildly dysmorphic facies. He otherwise has been normal. The propositus's brother, uncle, great-uncle, a half great-uncle, and six male half-cousins once removed also have DIP joint stiffness. The propositus' mother and brother also have an increased optic cup-to-disc ratio. In addition, the great-grandfather, the uncle, the same six male half-cousins once removed, and an affected daughter of a half-cousin have keloids with the earliest age of onset of the keloids being 12 years. Further, three of the above affected males have had uric acid renal stones. Dupuytren contractures and subcutaneous nodules were also present in some affected males. Given the family history, the pattern of inheritance appears to be X-linked. An extensive literature search failed to reveal any previous reports associating these manifestations and this inheritance pattern. Therefore, we think the condition in this family comprises a new genetic syndrome.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.
authors.forename: Candy A
authors.initials: CA
authors.lastname: Heyen
authors.forename: Paula R
authors.initials: PR
authors.lastname: Delk
authors.forename: Marilyn J
authors.initials: MJ
authors.lastname: Bull
authors.forename: David D
authors.initials: DD
authors.lastname: Weaver
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D003286:Contracture / Q000150:complications*; D005260:Female; D006801:Humans; D007596:Joints / Q000473:pathology*; D007627:Keloid / Q000150:complications*; D007669:Kidney Calculi / Q000150:complications* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009898:Optic Disk / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome