Auxological standards in bone dysplasias.
A variety of heritable bone dysplasias have been identified, affecting a total of 3-4.5 in 10,000 new-born individuals. Many of these dysplasias affect fetal growth and growth during infancy, with linear growth and body proportions being affected. Taken together, the effects of such dysplasias often result in a reduced adult height. Currently, radiographic criteria are used to distinguish between different dysplasias. However, additional clinical findings are often required to make a specific diagnosis. Molecular and genetic techniques may also be used to confirm a particular diagnosis. However, the specific genetic defect underlying each disorder has yet to be identified for the majority of disorders.
Hagenäs
L
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Paediatric Endocrine Unit, Karolinska Hospital, Stockholm, Sweden.
D000328:Adult; D001827:Body Height; D001848:Bone Diseases, Developmental / Q000145:classification / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology*; D006128:Growth; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D012016:Reference Values