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Published in Anton Sebastian, A Dictionary of the History of Medicine, 2018
Dolichostenomelia [Greek: dolichos, long + stems, narrow] The long, slender limb features of Marfan syndrome were described as ‘dolichostenomelia’ by Bernard Jean Antonin Marfan (1858–1942) in 1896. See Marfan syndrome.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Clinical features (early onset type): dolichostenomeliapectus carinatum or excavatumarachnodactylylarge joint contractures, joint laxitysevere cardiovascular disease: valve insufficiency, aortic dilatation, cardiomegalydislocation of the lens, blue sclerae, megalocorneas, hypoplastic iridesmicrognathia, crumpled ears h. cutis laxapulmonary emphysema, hiatus or paraoesophageal hernia.
Pharmacological resources, diagnostic approach and coordination of care in joint hypermobility-related disorders
Published in Expert Review of Clinical Pharmacology, 2018
JH is the hallmark of EDS but is not specific of these conditions. In other words, clinical evidence of JH should prompt the exclusion of EDS but differential diagnosis must be carried out on a wider perspective. Genetic disorders of the transforming growth factor β (TGFβ) is the second most relevant category of hereditary soft connective tissue disorders with JH. Marfan syndrome (MFS) is characterized by a typical body built (the so-called Mafanoid habitus with long and disproportionate limbs/dolichostenomelia, and long and thin digits), dilatation of the thoracic aorta with proneness to spontaneous dissections and ruptures, and lens dislocations. JH and related orthopedic traits are quite common. MFS is now recognized according to the revised Ghent criteria [17] and the diagnosis is usually confirmed by the identification of heterozygous pathogenetic variants in FBN1.