| 释义 |
DictionarySeesyndromeBeckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome[¦bek‚with ′wēd·ə·män ‚sin‚drōm] (medicine) A congenital, generalized overgrowth syndrome attributed to a relative deficiency of maternally derived genes that is characterized by visceromegaly and predisposition to childhood tumors, especially Wilms' tumor. Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome [bek´with ve´dĕ-mahn] an autosomal dominant syndrome with variable expressivity, usually seen as a growth-related disorder in infants with risk of the development of hypoglycemia and tumors; other characteristics include umbilical hernia, large protruding tongue, and gigantism, often with visceromegaly, cytomegaly" >adrenocortical cytomegaly, and dysplasia of the renal medulla. Information and peer support for families affected with this disorder can be obtained from the Beckwith-Wiedemann Support Network on the Internet at http://beckwith-wiedemann.org.Beck·with-Wie·de·mann syn·drome (bek'with vē'dĕ-mahn), [MIM*130650] an overgrowth syndrome characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; there is an association with hemihypertrophy Wilms tumors and adrenocortical cancer. Autosomal dominant inheritance, with most cases sporadic; influenced by genomic imprinting and uniparental disomy; caused by change in the P57 (KIP2) gene locus on chromosome 11p. Synonym(s): EMG syndrome, exomphalos, macroglossia, and gigantism syndromeCDKN1C A gene on chromosome 11p15.5 that encodes a strong inhibitor of several G1 cyclin/Cdk complexes and a negative regulator of cell proliferation.
Molecular pathology
CDKN1C mutation is implicated in sporadic cancers and Beckwith-Wiedemann syndrome, suggesting a role in tumour suppression.Beckwith-Wiedemann syndrome Pediatrics An AD condition characterized by overgrowth with visceromegaly–± asymmetric, resulting in hemihypertrophy, macroglossia, macrosomia, omphalocele, seizures, hyperinsulinemic hypoglycemia, mental retardation, microcephaly, renal medullary disease, pancreatic and renal hyperplasia, and ↑ benign–adrenal adenoma, hamartoma of heart and malignant–nephroblastoma, adrenocortical carcinoma, and embryonal tumors–eg, Wilms' tumor, hepatoblastoma, rhabdomyosarcoma. See Wilms' tumor. Beck·with-Wie·de·mann syn·drome (bek'with vē'de-mahn sin'drōm) Exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance. Beckwith, John Bruce, U.S. pediatric pathologist, 1933–. Beckwith syndrome - Synonym(s): Beckwith-Wiedemann syndromeBeckwith-Wiedemann syndrome - exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia; autosomal recessive inheritance. Synonym(s): Beckwith syndrome; EMG syndrome
Wiedemann, Hans Rudolf, German pediatrician, 1915–. Beckwith-Wiedemann syndrome - see under BeckwithMaroteaux-Spranger-Wiedemann syndrome - see under MaroteauxWiedemann syndrome - deformities in neonates caused by thalidomide ingestion during pregnancy.Beck·with-Wie·de·mann syn·drome (bek'with vē'de-mahn sin'drōm) [MIM*130650] An overgrowth syndrome characterized by exomphalos, macroglossia, and gigantism, often with neonatal hypoglycemia. AcronymsSeebattered woman syndrome |