Abstract:
:We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico-renal syndrome (MIM 227290), which is characterised by similar anomalies, with the additional finding of proteinuria, but without diaphragmatic hernia. The present observations further suggest that these syndromes are the variable expression of a single autosomal recessive disorder.
journal_name
J Med Genetjournal_title
Journal of medical geneticsauthors
Devriendt K,Standaert L,Van Hole C,Devlieger H,Fryns JPdoi
10.1136/jmg.35.1.70subject
Has Abstractpub_date
1998-01-01 00:00:00pages
70-1issue
1eissn
0022-2593issn
1468-6244journal_volume
35pub_type
杂志文章abstract::We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed t(X;21)(q28;q11). Diagnosis, inactivation of the X chromosome, and possible involvement of the translocation breakpoints in the pathogenesis of this syndrome are discussed. ...
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journal_title:Journal of medical genetics
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pub_type: 杂志文章,评审
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更新日期:2015-11-01 00:00:00
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更新日期:2006-07-01 00:00:00
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更新日期:1990-07-01 00:00:00
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