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

  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},
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.



Hirschsprung's disease and Waardenburg's syndrome.

There are several reports of an association of congenital deafness with Hirschsprung's aganglionic megacolon.1,2 This patient is described because she has Hirschspning's disease in association with

Waardenburg syndrome associated with Hirschsprung disease and other abnormalities.

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.

Bilateral bicolored irides with Hirschsprung's disease. A neural crest syndrome.

• A syndrome in which bicolored irides and congenital megacolon were the sole manifestations occurred in three Mexican siblings. Analysis of the pedigree suggested an autosomal recessive mode of

The association of Waardenburg syndrome and Hirschsprung megacolon.

It is concluded that the association of these two uncommon disorders is pathophysiologically significant and should be investigated further.

Piebaldness with Hirschsprung's disease.

A patient with piebaldness associated with Hirschsprung's disease was observed, the fourth child in a nonconsanguineous marriage, and family history indicated that the eldest brother of the patient had a white forelock, hypopigmented patches on the face, and Hirsch SPRD.

Waardenburg's syndrome with fundus and other anomalies.

Study of 14 new cases of Waardenburg's syndrome in patients of different racial origin reveals that the hypochromic iris (usually light blue) is characteristically associated with a homolateral blond or albinoid fundus.

Piebaldness and Hirschsprung's Disease

To the Editor.— The association of piebaldness with Hirschsprung's disease was noted in a letter by Mahakrishnan and Srinivasan in the October 1980Archives(116:1102). The authors suggested that "such

The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome

Six members of a family were discovered to have many of the manifestations of Waardenburg's syndrome, and increased levels of total serum lipids. The latter was marked in most of the members,

Defect of neutrophil mobility with dominant inheritance in a family with Waardenberg's syndrome

Immunological studies showed defective neutrophil mobility in vitro (which could account for the susceptibility of such patients to infection) and the presence of high serum IgM levels in a family with Waardenberg's syndrome and recurrent infections.

Defect of neutrophil mobility with dominant inheritance in a family with Waardenburg's syndrome.

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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.