Other Tests

Partington used the following three interocular distances for determining the presence of dystopia cantorum (The referent value between distance of the medial canthi of the eyelids and the length between the pupils was 0.6 mm.):

Between the inner canthal angles
The near papillary distance
Between the other canthal angles

Arias and Mota developed the W index, as follows, for the diagnosis of lateral displacement of the inner canthi (A W index of more than 2.07 shows dystopy, while an index of less than 1.87 is normal.):

W index = X + Y + alb
Where X = [a - {0.21119c + 3.909}]/c and Y = [2a - {0.2497b + 3.909}]/b in mm
Distance a is between inner canthi; distance b, between pupils; and distance c, between outer canthi.

Histologic Findings

Histochemical studies in the achromic skin of persons with Waardenburg syndrome show that the melanocytes are absent, or that only a few dihydroxyphenylalanine-positive cells are present.

Ultrastructural observations do not reveal melanocytes, indeterminate dendritic cells, or melanosomes in the keratinocytes of depigmented skin; however, the number of Langerhans cells in the epidermis is normal. The number of melanocytes on the edge of the leukodermas is reduced, and numerous cytoplasmic nuclear abnormalities are noted. Some melanosomes surrounded by a clear halo are found inside of vacuoles. The number of melanocytes in the hypopigmented patches of Waardenburg syndrome is dramatically reduced. These dendritic cells contained poorly melanized melanosomes.

Histopathologic examination of the inner ears of persons with Waardenburg syndrome shows absent organs of Corti, atrophy of the spinal ganglion, and reduced numbers of nerve fibers.

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Milunsky JM, Maher TA, Ito M, Milunsky A. The value of MLPA in Waardenburg syndrome. Genet Test. 2007 Summer. 11(2):179-82. [QxMD MEDLINE Link].
Broomfield SJ, Bruce IA, Henderson L, Ramsden RT, Green KM. Cochlear implantation in children with syndromic deafness. Int J Pediatr Otorhinolaryngol. 2013 Aug. 77 (8):1312-6. [QxMD MEDLINE Link]. [Full Text].
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Media Gallery

Marked facial asymmetry, lagophthalmos, a drooping right corner of the mouth. Image courtesy of Dourmishev LA et al, Cutis 1999; 63:139-40. Copyright 1999, Quadrant Healthcom, Inc.
Visage in profile demonstrates absence of nasofrontal angle, eyebrow hypertrichosis, upturned nasal tip, and shortened upper lip with a pronounced cupid's bow. Image courtesy of Dourmishev LA et al, Cutis 1999; 63:139-40. Copyright 1999, Quadrant Healthcom, Inc.
Brother and sister with Waardenburg syndrome. Image courtesy of Dourmishev LA et al, Cutis 1999; 63:139-40. Copyright 1999, Quadrant Healthcom, Inc.

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Author

Lyubomir A Dourmishev, MD, PhD Associate Professor, Department of Dermatology and Venereology, Medical University of Sofia, Bulgaria

Lyubomir A Dourmishev, MD, PhD is a member of the following medical societies: European Academy of Dermatology and Venereology

Disclosure: Nothing to disclose.

Coauthor(s)

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

Sections Dermatologic Manifestations of Waardenburg Syndrome
Overview
Presentation
DDx
Workup
Media Gallery
References

Dermatologic Manifestations of Waardenburg Syndrome Workup

Other Tests

Histologic Findings

References

Tables

Contributor Information and Disclosures

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