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Disease: Eye defects arachnodactyly cardiopathy

  • A Rare Case Of Shprintzen-Goldberg Syndrome
  • Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features?
  • Aortopathies: etiologies, genetics, differential diagnosis, prognosis and management
  • Clinical and genetic associations in Marfan syndrome and related disorders
  • Congenital contractural arachnodactyly
  • Congenital contractural arachnodactyly (Beals-Hecht syndrome) associated with Brown's syndrome
  • Intraoperative absent bilateral medial recti in syndromic craniosynostosis
  • Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality method
  • Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling
  • Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
  • Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome
  • Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
  • Shprintzen-Goldberg Syndrome: A Rare Disorder
  • Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation
  • Valve-sparing aortic root replacement in Marfan syndrome
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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