Waardenburg's Syndrome with Hirschsprung's Disease: A Neural Crest Defect

@article{Mallory1986WaardenburgsSW,
  title={Waardenburg's Syndrome with Hirschsprung's Disease: A Neural Crest Defect},
  author={Susan Bayliss Mallory and Eugene S. Wiener and James J. Nordiund},
  journal={Pediatric Dermatology},
  year={1986},
  volume={3}
}
Abstract: Waardenburg's syndrome and Hirschsprung's disease are both conditions involving a defect of migrating neural crest cells and may be seen together. We report a patient with the combination of these two diseases and review the literature on the subject. Physicians should be aware that deafness can be associated with pigmentary anomalies. 

Anesthetic problems in a child with Waardenburg's syndrome and Hirschsprung's disease

This work describes a patient who has Waardenburg's syndrome, and problems in her anesthetic management are discussed.

Waardenburg's syndrome and pituitary tumor

The association of Waardenburg's syndrome with pituitary tumor is rare, and may be fortuitous, however, it is interesting to note that both disorders are derived from the same embryological origin.

Ichthyosis, Deafness, and Hirschsprung's Disease

Although no corneal changes were observed, it is believed that the clinical features of ichthyosis and deafness suggest the diagnosis of Kid (keratitis, ICHthyosis, deafness) syndrome, since the infant died of mainutrition and infectious complications.

Congenital muscular dystrophy with neurological abnormalities: association with Hirschsprung disease.

It is proposed that Hirschsprung disease be added to the list of anomalies pertaining to the "CMD Plus" array, and that CMD should be considered when HirschSprung disease occurs with central nervous system anomalies.

[Waardenburg syndrome].

In his family pedigree analysis, it is found that his second cousin has oculocutaneous albinism, and he suffers from congenital deafness and presents high broad nasal root, synophrys, iris heterochromia and fundus hypopigment.

Neurocristopathy Syndrome: Review of Four Cases

Four examples of the neurocristopathy syndrome are described that collectively feature a very broad range of expression in these infants and it is believed that greater familiarity with the disorder will aid in the discovery of unsuspected anomalies and provide clues about predisposing etiologies.

An epidemiological study of Hirschsprung's disease and additional anomalies

Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Pædiatr 1994;83:68–71. Stockholm. ISSN 0803–5253.

Waardenburg syndrome

Syndromes exist which are caused by the physical absence of melanocytes from the skin, hair, eyes, or the stria vascularis of the cochlea that produce auditory and pigmentary findings, including piebaldism, Woolf's syndrome, and Waardenburg syndrome.

Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature

A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short, and the clinical features of Aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent with those of Hirschsprung's disease associated with Ondine’s curse.

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This patient, FD, was born at 41 weeks9 gestation with a birth weight of 3,225 gm following an uncomplicated pregnancy and is believed to be caused by a defect in the migration of neural crest cells before the 12th week of gestation.

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It is modestly concluded that the association may be coincidental, giving this possibility as much weight as of the two phenomena being linked.