title: Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.
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.
authors.affiliation: Department of Pediatric Surgery, Medical University of Graz, 8036 Graz, Austria. georg.singer@meduni-graz.at
authors.forename: Georg
authors.initials: G
authors.lastname: Singer
authors.forename: Johannes
authors.initials: J
authors.lastname: Schalamon
authors.forename: Herwig
authors.initials: H
authors.lastname: Ainoedhofer
authors.forename: Erwin
authors.initials: E
authors.lastname: Petek
authors.forename: Peter M
authors.initials: PM
authors.lastname: Kroisel
authors.forename: Michael E
authors.initials: ME
authors.lastname: Höllwarth
mesh_terms: D000328:Adult; D001024:Aortic Valve Stenosis; D001778:Blood Coagulation Disorders / Q000209:etiology* / Q000235:genetics; D005173:Factor XI Deficiency / Q000235:genetics; D005175:Factor XII Deficiency / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D012447:Sacrum / Q000002:abnormalities*; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics