Literature DB >> 15365456

Congenital cardiac disease as a core feature of cranio-osteoarthropathy.

Susan O'Connell1, Mohnish Suri, Desmond Duff, Jeremiah Kelleher, Christine M Hall, William Reardon.   

Abstract

Cranio-osteoarthropathy is a rare condition. Classically, signs are identifiable in infancy with clubbing of fingers, and delayed closure of the clinically enlarged cranial sutures, followed by periosteal new bone formation on X-rays of the long bones. Ultimately, joint swelling and stiffness follow, typically involving the large joints. We report two unrelated patients with features of cranio-osteoarthropathy, both of whom also had a history of congenital heart disease. Moreover, the cases reported here, manifesting significant differences in radiological features, emphasize the variability of radiological findings which can attend this condition.

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Year:  2004        PMID: 15365456     DOI: 10.1097/00019605-200410000-00003

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  3 in total

1.  HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.

Authors:  Wenke Seifert; Julia Beninde; Katrin Hoffmann; Tom H Lindner; Christian Bassir; Fuat Aksu; Christoph Hübner; Nienke E Verbeek; Stefan Mundlos; Denise Horn
Journal:  Eur J Hum Genet       Date:  2009-07-01       Impact factor: 4.246

2.  Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Authors:  Beyhan Tüysüz; Saliha Yılmaz; Özgür Kasapçopur; Tuğba Erener-Ercan; Emre Ceyhun; Kaya Bilguvar; Murat Günel
Journal:  Rheumatol Int       Date:  2014-05-12       Impact factor: 2.631

Review 3.  Cranio-osteoarthropathy: a rare variant of hypertrophic osteoarthropathy.

Authors:  X Chen; C C Zou; G P Dong; L Liang; Z Y Zhao
Journal:  Ir J Med Sci       Date:  2009-05-09       Impact factor: 1.568

  3 in total

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