title: A case of brachyolmia.
abstract: Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal or diaphyseal changes in long bones. Three, possibly four, types of brachyolmia have been defined: Type I-Hobaeck-Toledo type. Type II-Maroteaux and Type III. We report a patient with brachyolmia and present the clinical and radiological findings. A 15-year-old boy presented to our Outpatient Department because of his short stature. His height, weight, head circumference and arm span were 127 cm (< 3rd percentile), (3rd percentile) 39 kg, 55 cm (50th-75th percentile), and 142 cm respectively, and his upper segment/lower segment ratio was 0.91. His neck and trunk were short. He had severe kyphoscoliosis. Slit-lamp examination was normal. Radiologic features included platyspondyly in cervical, thoracic and lumbar vertebrae as well as kyphoscoliosis. Bilateral coxa valga and mild acetabular irregularities were noticed on pelvic radiographies. Levels of chondroitin and heparan sulphate as well as the glycosaminoglycan/creatinine ratio were elevated in the 24-hour urine specimen. The activities of N-acetylgalactosamine-6-sulphatase, beta-galactosidase and beta-hexosaminosidase were all normal in fibroblast culture. Although the x-ray findings of this patient are consistent with both Types I and III, recessive inheritance and glycosaminoglycan anomalies point to Type I brachyolmia.
authors.affiliation: Department of Pediatrics, Istanbul University Istanbul Faculty of Medicine.
authors.forename: N
authors.initials: N
authors.lastname: Karabiyik
authors.forename: F
authors.initials: F
authors.lastname: Oğuz
authors.forename: M
authors.initials: M
authors.lastname: Sidal
authors.forename: N
authors.initials: N
authors.lastname: Hekim
authors.forename: H
authors.initials: H
authors.lastname: Kayserili
mesh_terms: D000293:Adolescent; D003241:Consanguinity; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography
chemical_list: D006025:Glycosaminoglycans