Possible Waardenburg syndrome with gastrointestinal anomalies.
نویسندگان
چکیده
We describe a patient with possible Waardenburg syndrome associated with anal atresia and oesophageal atresia with tracheooesophageal fistula. Three other published cases with atretic gastrointestinal anomalies associated with the Waardenburg syndrome are reviewed. We conclude that the association between atretic lesions of the gastrointestinal tract and the Waardenburg syndrome may be a significant one.
منابع مشابه
گزارش یک مورد سندروم واردنبرگنوع دو (گزارش مورد)
Waardenburg syndrome (WS) is a rare disease characterized by sensor neural deafness in association with pigmentary anomalies and defects of neural-crest-derived tissues. WS is caused by mutations in the microphthalmia-associated with transcription factor gene. This case is a 10 month old infant girl in which during a routine physical examination found that she has hetetrochromia and unilate...
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A 3-month-old male infant with type I Klein-Waardenburg syndrome with an imperforated anus and a perineal fistula is reported. The possible association of this gastrointestinal malformation with the KW syndrome is discussed.
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Hirschsprung disease and Waardenburg syndrome are human genetic diseases characterized by distinct neural crest defects. Patients with Hirschsprung disease suffer from gastrointestinal motility disorders, whereas Waardenburg syndrome consists of defective melanocyte function, deafness, and craniofacial abnormalities. Mutations responsible for Hirschsprung disease and Waardenburg syndrome have b...
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WAARDENBURG'S syndrome, or more fully the van der Hoeve-Halbertsma-Waardenburg-Klein syndrome, is a combination of ocular and associated anomalies which are always genetically determined and usually show a dominant transmission. The individual features of the syndrome are not of themselves uncommon and the most characteristic of these, outward displacement of the inner canthi, has been describe...
متن کاملWaardenburg syndrome with a fixed dilated pupil.
An unusual case of Waardenburg syndrome associated with a detailed and fixed pupil of the lighter eye is described. Pharmacological investigations were performed to localise the site of the pupillary lesion. A lack of cholinergic reactivity was demonstrated, possibly due to congenital agenesis of the sphincter pupillae. Sympathetic activity was not impaired. Spiral ganglion agenesis and midline...
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عنوان ژورنال:
- Journal of medical genetics
دوره 23 2 شماره
صفحات -
تاریخ انتشار 1986