[Pyknodysostosis. (Maroteaux-Lamy syndrome)].
The syndrome of pyknodysostosis is described in a male patient 42 years of age. Pyknodysostosis is characterized by short stature, delayed closure of fontanels, persistence of open cranial sutures and bone fractures. Pyknodysostosis is a hereditary disorder with a prevalence to offsprings of consanguineous intermarriages.
D000328:Adult; D003241:Consanguinity; D050723:Fractures, Bone / Q000209:etiology; D006130:Growth Disorders / Q000209:etiology; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications*; D009087:Mucopolysaccharidosis VI / Q000150:complications*; D010014:Osteolysis / Q000209:etiology; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging
Die Pyknodysostose (Maroteaux-Lamy-Syndrom).