title: Hirsutism-skeletal dysplasia-mental retardation syndrome with abnormal face and a uric acid metabolism disorder.
abstract: We report on a German boy, born to nonconsanguineous parents, with an apparently new combination of multiple congenital anomalies including extraordinary hirsutism, marked brachycephaly, abnormal position of thumbs, pedes excavati with claw-toes, an abnormal face, and mental retardation. Additionally the boy manifests a disorder of uric acid metabolism. This sporadic case may represent a new syndrome due to a fresh autosomal or X-linked mutation, or chance-isolated case due to segregation of an autosomal recessive gene.
authors.affiliation: Department of Pediatrics, Christian-Albrecht's University, Kiel, Germany.
authors.forename: H R
authors.initials: HR
authors.lastname: Wiedemann
authors.forename: H D
authors.initials: HD
authors.lastname: Oldigs
authors.forename: H C
authors.initials: HC
authors.lastname: Oppermann
authors.forename: O
authors.initials: O
authors.lastname: Oster
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D005145:Face / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005500:Follow-Up Studies; D006628:Hirsutism / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics; D010808:Physical Examination; D011859:Radiography; D013577:Syndrome; D014527:Uric Acid / Q000378:metabolism*
chemical_list: D014527:Uric Acid