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pro vyhledávání: '"Georg Eich"'
We present a preterm-born girl with polydactyly of both hands and massive hydrometrocolpos, the latter due to vaginal atresia. This association led initially to the diagnosis of McKusick-Kaufman syndrome (MKKS). However, additional features, includin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1ff0793b9fc16f677a485c4d3ce665
http://doc.rero.ch/record/314695/files/247_2008_Article_870.pdf
http://doc.rero.ch/record/314695/files/247_2008_Article_870.pdf
Autor:
Valérie Schwitzgebel, Georg Eich
Publikováno v:
Schweizerische Ärztezeitung. 97
Autor:
Valérie Schwitzgebel, Georg Eich
Publikováno v:
Bulletin des Médecins Suisses. 97
Autor:
Martine LeMerrer, Diana Ballhausen, Georg Eich, Luisa Bonafé, Raffaele Renella, Sheila Unger, Elke Schaefer, Eugen Boltshauser, Teresa Costa, Andrea Superti-Furga, Nurgun Kandemir, A. Giedion, Yasemin Alanay
Publikováno v:
American Journal of Medical Genetics Part A. :541-550
Enchondromas are a feature of several constitutional disorders of bone, and the classification of different nosologic entities is still provisional. Among these disorders, spondyloenchondrodysplasia (SPENCD), as outlined by Schorr et al. [1976], is d
Autor:
Eugen Boltshauser, A. Giedion, Eveliina Jakkula, M Marti, Luisa Bonafé, V Schuster, A Capone, Georg Eich, Andrea Superti-Furga, Jaana Lohiniva, Leena Ala-Kokko
Publikováno v:
Journal of Medical Genetics. 40:942-948
Multiple epiphyseal dysplasia (MED) is clinically and genetically a heterogeneous disorder that affects growth centres and results in delayed and irregular mineralisation of the ossification centres.1,2 Recessively inherited MED (rMED; MIM 226900) ac
Publikováno v:
Clinical Genetics. 61:146-151
Mutations in the RMRP gene that codes for an RNA subunit of the MRP RNAse complex are the cause of cartilage-hair hypoplasia (CHH; MIM 250250). We tested the hypothesis that recessive metaphyseal dysplasia without hypotrichosis (M1M 250460), a disord
Autor:
Georg Eich, R. Huch, Albert Huch, Diana Sobetzko, Andrea Superti-Furga, J. Wisser, N. Kölble, J. Ersch, Thomas Stallmach
Publikováno v:
Ultrasound in Obstetrics and Gynecology. 19:92-98
Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management. In or
Publikováno v:
European journal of radiology. 83(8)
Evaluation of the anterior tilt angle of the proximal tibia epiphyseal plate in young children, which suffered a trampoline fracture in comparison with a normal population.62 children (31 females, 31 males) between 2 and 5 years of age (average 2 yea
Autor:
Antonio Rossi, M. A. Spycher, Georg Eich, Beat Steinmann, U. Stucki, P. Sacher, Andrea Superti-Furga
Publikováno v:
American Journal of Medical Genetics. 100:122-129
A boy presented at age 3.5 months with joint contractures, restlessness, and pain on handling. His skin was thickened and there were livid-red macular lesions over bony prominences. Infantile systemic hyalinosis (ISH) was diagnosed, a presumably auto
Autor:
Soha Haddad-Zebouni, Andrea Superti-Furga, Georg Eich, Fady A. Haddad, Martine Le Merrer, Mitri Achram, André Mégarbané
Publikováno v:
Clinical Genetics. 56:71-76
Atypical or variant forms of well-known chondrodysplasias may pose diagnostic problems. We report on a girl with clinical features suggesting diastrophic dysplasia but with unusual radiographic features including severe platyspondyly, wide metaphyses