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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Singer, G; Schalamon, J; Ainoedhofer, H; Petek, E; Kroisel, PM; Höllwarth, ME.
Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
J PEDIAT SURG. 2005; 40(11): e47-e50.
Doi: 10.1016/j.jpedsurg.2005.07.048
(- Case Report)
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- Leading authors Med Uni Graz
- Singer Georg
- Co-authors Med Uni Graz
- Ainödhofer Herwig
- Höllwarth Michael
- Kroisel Peter
- Petek Erwin
- Schalamon Johannes
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Adult -
- Aortic Valve Stenosis -
- Blood Coagulation Disorders - etiology
- Factor XI Deficiency - genetics
- Factor XII Deficiency - genetics
- Female - genetics
- Humans - genetics
- Infant, Newborn - genetics
- Magnetic Resonance Imaging - genetics
- Sacrum - abnormalities
- Williams Syndrome - complications
- Find related publications in this database (Keywords)
- Williams-Beuren syndrome
- sacral agenesis
- coagulation disorder