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  • Title: Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
    Author: Singer G, Schalamon J, Ainoedhofer H, Petek E, Kroisel PM, Höllwarth ME.
    Journal: J Pediatr Surg; 2005 Nov; 40(11):e47-50. PubMed ID: 16291141.
    Abstract:
    Williams-Beuren syndrome is a genetic disorder caused by a heterozygous deletion at 7q11.23. The present report describes a female patient with Williams-Beuren syndrome combined with caudal regression syndrome and two forms of coagulopathy. Besides the typical developmental abnormalities such as mental and growth retardation, a distinctive facial appearance, and cardiovascular anomalies, our patient showed fusion of fourth and fifth lumbar vertebra and a sacrococcygeal agenesis. Blood coagulation tests revealed a deficiency of coagulation factor XI and XII. Magnetic resonance imaging angiography showed multiple vascular stenoses mainly in the abdominal aorta and its major branches as a consequence of the insufficient elastin gene. Previous reports identified a deletion of HLXB9 as a possible genetic cause of the caudal regression syndrome, which could not be identified in the present case. This unusual combination of the above-mentioned genetic disorders has not been published so far.
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