Waardenburg Syndrome with Associated Multiple Anomalies

Zelig, Silviu; Deutsch, E; Eilon, Amos

doi:10.1159/000275681

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…Though uncommon, yet PAS may be associated with other abnormalities such as renal hypoplasia/renal agenesis and hearing loss, imperforate anus, cleft palate, spina bifida, umbilical hernias, undescended testes and reduplication of duodenum. At times PAS may be a part of certain syndromes like branchio-otorenal syndrome, Treacher Collins syndrome, Goldenhar syndrome, Waardenburg's syndrome, trisomy 22 etc [2,[5][6][7][8]. Our case did not have any of the above features.…”

Section: Discussionmentioning

confidence: 70%

A case of congenital pre-auricular sinuses masquerading as otitis media

Aggarwal

Faridi

Bhargava

2015

J Pediatr Infect Dis

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A 3 year old boy presented with fever, pain and discharge from the right ear. On examination, swelling and redness were present behind the right ear and pus like discharge was found oozing from a tiny opening present in the right ear on the anterior margin of the helix. A diagnosis of congenital pre-auricular sinus with superimposed bacterial infection was made. Patient was treated successfully with a course of antibiotics. A similar uninfected pre-auricular sinus was present on the helix of the opposite ear. Both mother and younger sibling also had uninfected congenital bilateral pre-auricular sinuses.

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Section: Discussionmentioning

confidence: 70%

A case of congenital pre-auricular sinuses masquerading as otitis media

Aggarwal

Faridi

Bhargava

2015

J Pediatr Infect Dis

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“…These may be unconnected with the ocular anoma lies, although syndactyly has also been reported in a child with Waardenburg syndrome. 79 Other neurocristopathic findings such as Hirschsprung syndrome have not been noted with regularity in merle animals. There are many thousands of merle dogs in Britain, but work to examine them ophthalmoscopically in a systematic manner has yet to be attempted.…”

Section: Ocular Dysgenesis and The Merle Genementioning

confidence: 99%

A comparative approach to anterior segment dysgenesis

Williams¹

1993

Eye

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SUMMARYThe role of animal models in our developing understand ing of anterior segment dysgenesis is outlined. Research in avian models shows the importance of the neural crest in the development of the anterior segment and the fail ure of terms such as anterior segment cleavage adequately to describe the embryology of this area. Study of the anatomical differences between the anterior seg ment of the primate and that of the sub-primate mammal explains the differences seen in the dysplastic changes occurring in the iridocorneal angle in man and those occurring in sub-primate mammals such as the rabbit or the dog. Such work gives an improved understanding of congenital lesions seen ophthalmologically in man as well as those encountered in veterinary ophthalmology.The last 15 years have seen an upsurge of knowledge con cerning the embryological origins of the craniofacial region, including the eye. These new insights into the normal and abnormal patterns of craniofacial develop ment have inevitably overturned and refined cherished theories concerning the embryology of specific structures in this area. Nowhere has this been more obvious than in the anterior segment of the eye, where theories of meso dermal cleavage have been definitively demonstrated to be totally incorrect. Mesoderm is clearly not involved in the establishment of the anterior segment, which is almost completely derived from neurectoderm and neural crest. There is no cleavage: sequential migration of waves of neural crest cells establishes the corneal endothelium and stroma, iris, and angle.We now understand the embryological origins of the anterior segment development, but are by no means out of the trees with regard to a comprehensive appreciation of the genesis of the wide range of congenital, and indeed later onset abnormalities of the corneal endothelium, iris

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Congenital Malformations of the Ear

Samy

Choo

2013

Congenital Malformations of the Head and Neck

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Waardenburg Syndrome with Associated Multiple Anomalies

Cited by 5 publications

References 4 publications

A case of congenital pre-auricular sinuses masquerading as otitis media

A case of congenital pre-auricular sinuses masquerading as otitis media

A comparative approach to anterior segment dysgenesis

Congenital Malformations of the Ear

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