Publications by authors named "Anne Klusmann"
Unlabelled: Polyarteritis nodosa is a rare disease in childhood and adolescence that is difficult to diagnose clinically. We report on a 17-y-old girl presenting with a history of recurrent infections of the upper respiratory tract and conjunctivitis followed by a painful rash on the upper and lower extremities resembling erythema nodosum. The diagnosis of polyarteritis nodosa was proven by skin biopsy.
View Article and Find Full Text PDFDyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.
Am J Med Genet A
March 2006
Article Synopsis
- Dyggve-Melchior-Clausen syndrome (DMC) and Smith-McCort dysplasia (SMC) are rare genetic disorders affecting bone development, linked to mutations in the DYM gene on chromosome 18.
- DMC typically results from loss-of-function mutations leading to more severe skeletal issues, while SMC is associated with milder missense mutations that may retain some DYM activity.
- A study of three consanguineous families revealed specific mutations in DMC, but no mutations were found in one SMC family, indicating potential genetic differences within these disorders.
Background/aim: Neural tube defects (NTDs) are the most common birth defects, resulting in severe mortality and morbidity. In 1995, the supplementation of folic acid periconceptionally was officially recommended in Germany. The impact of the recommendations on the rate of NTDs was assessed.
View Article and Find Full Text PDFUnlabelled: The tourniquet syndrome describes severe strangulations of appendages by hair, cotton or similar material mainly observed in young infants. The painful swellings of digits or external genitals are surgical emergencies because the strangulation can cause ischaemia and tissue necrosis. More than 100 cases of the tourniquet syndrome have been reported in most of which the aetiology was unclear.
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