Literature DB >> 7735014

Incomplete forms of Beckwith-Wiedemann syndrome: report of a case.

K C Chan1, W K Cheung, Y C Chen.   

Abstract

Beckwith-Wiedemann syndrome is a rare disease characterized by a constellation of congenital and time-dependent abnormalities such as defects of the abdominal wall, gigantism, craniofacial dysmorphism, visceromegaly and hemihypertrophy. The syndrome is divided into complete and incomplete forms and, as it may only have subtle phenotypic features, it is easily neglected by clinicians. Patients with this syndrome, particularly those associated with hemihypertrophy, have a high risk of growing malignant tumors. This is a case report of a patient with an incomplete form of this syndrome with left hemihypertrophy, hepatosplenomegaly and a small right adrenal cystic lesion.

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Year:  1994        PMID: 7735014

Source DB:  PubMed          Journal:  J Formos Med Assoc        ISSN: 0929-6646            Impact factor:   3.282


  1 in total

1.  Beckwith-Weidemann syndrome with IC2 (KvDMR1) hypomethylation defect: a novel mutation.

Authors:  Aakash Pandita; Shikha Gupta; Girish Gupta; Astha Panghal
Journal:  BMJ Case Rep       Date:  2018-03-30
  1 in total

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