Τίτλος:
Holt-Oram Syndrome in a Patient with Crohn's Disease: a Rare Case Report and Literature Review
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Introduction: Holt-Oram syndrome (HOS) is an uncommon autosomal dominant disorder defined by congenital cardiac defects, some anatomical deformities in the upper limb and conduction abnormalities. Sequence alteration of TBX5 gene located on chromosome 12 has associated with HOS. Case report: We present the case of a 26-year-old female with known upper limb alteration and ventricular septal defect who later in life developed Crohn's disease. Conclusion: To the best of our knowledge association of Holt-Oram syndrome with Crohn's disease has not been reported in literature before. Therefore, a possible genetic connection between Holt-Oram syndrome and Crohn's disease remains to be determined.
Συγγραφείς:
Arkoumanis, P.-T.
Gklavas, A.
Karageorgou, M.
Gourzi, P.
Mantzaris, G.
Pantou, M.
Papaconstantinou, I.
Περιοδικό:
Medical archives (Sarajevo, Bosnia and Herzegovina)
Λέξεις-κλειδιά:
adult; arm malformation; case report; complication; congenital heart malformation; Crohn disease; female; heart septum defect; human; leg malformation; multiple malformation syndrome; rare disease; treatment outcome, Abnormalities, Multiple; Adult; Crohn Disease; Female; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Rare Diseases; Treatment Outcome; Upper Extremity Deformities, Congenital
DOI:
10.5455/medarh.2018.72.292-294
