title: Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome.
abstract: The 6p25 microdeletion syndrome comprises the Axenfeld-Rieger eye anomaly in association with a characteristic facies, developmental delay, hearing loss, and organ malformations. Skeletal anomalies in the form of hemivertebrae, clubfeet, and other positional joint anomalies have also been described in some patients. We report on a patient with a 2.2-2.4 Mb terminal microdeletion of the short arm of chromosome 6 who in addition had abnormalities of the proximal femoral and humeral epiphyses. We suggest that an epiphyseal dysplasia may be an additional clinical component of the 6p25 microdeletion syndrome.
authors.affiliation: Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.
authors.forename: Peter
authors.initials: P
authors.lastname: Kannu
authors.forename: Paul
authors.initials: P
authors.lastname: Oei
authors.forename: Howard R
authors.initials: HR
authors.lastname: Slater
authors.forename: Ouda
authors.initials: O
authors.lastname: Khammy
authors.forename: Salim
authors.initials: S
authors.lastname: Aftimos
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics* / Q000648:ultrastructure; D004838:Epiphyses / Q000002:abnormalities / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000175:diagnosis; D019066:Facies; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000528:radiation effects; D006801:Humans; D006811:Humerus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011859:Radiography