In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di
Genetic heterogeneity associated with branchio-oto-renal syndrome
β Scribed by Kumar, Shrawan; Kimberling, William J.; Marres, Henri A.M.; Cremers, Cor W.R.J.
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 3 KB
- Volume
- 83
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990319)83:3<207::aid-ajmg12>3.0.co;2-a
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The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomaldominant branchio-oto-renal s
Fig. . The radiocontrast study obtained via the umbilical opening demonstrates the deformed urinary bladder, vesicoureteroreflux, the posterior urethra with normal calibration, and the atresia in the anterior urethra with cystic dilation behind.
A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition ''HDR syndrome.'' We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chr