Waardenburg syndrome is a very rare auditory-pigment syndrome with autosomal dominant inheritance. In his first report in 1951, Waardenburg characterized this syndrome as dystopia canthorum, a high broad nasal bridge, synophrys[confluent eyebrows], heterochromia iridid, a white forelock or early graying, and sensory neural deafness. We observed a case of Type 2 Waardenburg syndrome with openangle glaucoma and, therefore report with literature review.
Deafness ; Glaucoma ; Glaucoma, Open-Angle* ; Waardenburg Syndrome* ; Wills

Animals ; Humans ; SOXE Transcription Factors ; genetics ; Waardenburg Syndrome ; etiology ; genetics

Waardenburg's syndrome is a very rare hereditary disease with the outstanding clinical characteristics including lateral displacement of the medial canthi of the eyes and of the inferior lacrimal puncta, a broad, prominent root of the nose, hyperplasia of the medial protions of the eye-brows, white or grey forelock, partial or total heterochromia of the irides, and neurosensory deaf-mutism. The authors recently experienced two cases of Waardenburg's syndrome in a 25 year old female and a 20 year old male. So, the literature of the Waardenburg's syndrome was briefly reviewed with clinical history.
Adult ; Deafness ; Female ; Genetic Diseases, Inborn ; Humans ; Hyperplasia ; Male ; Nose ; Waardenburg Syndrome* ; Young Adult

We report a case of Waardenburgs syndrome in 18-year-old male patient who has total deafness of the right ear, heterochromia irides, hypopigmented patches on the face and trunk, and disseminated lentigines on the entire body surface since birth. His 51-year-old mother also has total deafness, heterochromia irides, white foreloek, and disseminated lentigines on the entire body surface. The patient with this disorder may complain of pigmentary abnormalities, and we believe dermatologists should pay more attention to systemic signs of the congenital pigmentary disorders.
Adolescent ; Deafness ; Ear ; Humans ; Lentigo ; Male ; Middle Aged ; Mothers* ; Parturition ; Waardenburg Syndrome*

PURPOSE: We report a case of Type 3 Waardenburg syndrome accompanied by intermittent exotropia, which had not previously been encountered in Korea along with the literature study. METHODS: A 5-year-old boy visited as a result of hypochromic heterochromic iridum in the right eye. Suspecting Type 3 Waardenburg syndrome, plain radiography, a hearing test, an alternate prism cover test and fundus examinations were performed and the presence of lateral displacement of the lacrimal puntum was evaluated. RESULTS: The presence of hypochromic heterochromic iridum, dysplasia of the left thumb, sensorineural deafness, dystopia canthorum along with a lateral displacement of the lacrimal puntum, albinism of the posterior pole upon a fundus examination, and intermittent exotropia with a 20 prism diopters of deviation were found. CONCLUSIONS: This patient showed the 4 criteria for a diagnosis of Type 3 Waardenburg syndrome including hypochromic heterochromic iridum, dystopia canthorum along with lateral displacement of the lacrimal puntum, sensorineural deafness, and a muscular system abnormality, i.e., dysplasia of the left thumb. He also showed intermittent exotropia.
Albinism ; Child, Preschool ; Deafness ; Diagnosis ; Exotropia ; Hearing Tests ; Humans ; Korea ; Male ; Radiography ; Thumb ; Waardenburg Syndrome*

PURPOSE: To report the first case of Waardenburg syndrome type 4 in Korea. CASE SUMMARY: A 3-year-old boy visited our clinic to have his abnormal right eye iris color checked. The patient had a previous operation Hirschsprung's disease. In addition, his older sister and aunt showed similar ocular findings. A general physical examination, hearing test, and fundus examination were performed. On examination, hypochromic heterochromic iridum, albinism of the posterior pole upon ipsilateral fundus, and dystopia canthorum were found. There was no abnormal finding in the hearing test. CONCLUSIONS: The patient showed hypochromic heterochromic iridum, dystopia canthorum, and albinism of ipsilateral fundus. He also had a family history of Waardenburg syndrome and had surgery associated with congenital megacolon. The patient was diagnosed with Waardenburg syndrome type 4.
Albinism ; Child, Preschool ; Hearing Tests ; Hirschsprung Disease ; Humans ; Iris ; Korea ; Male ; Physical Examination ; Siblings ; Waardenburg Syndrome*

Warrdenburg's syndrome, a rare hereditary disease, may be transmitted as an irregular autosomal dominant traits, which is distinguished by lateral displacement of the medial canthi and inferior lacrimal puncta, broad and prominant nasal root, hyperplasia of the medial portions of the eye-brows, white or grey colored forelock, partial or total heterochromia of the irides, congenital deafness, etc. Recently, the authors have experienced three cases of Waardenburg's syndrome in one family. They were 29 year old male, his 4 year old son and 3 year old daughter. We report these interesting cases with a brief review of literatures.
Adult ; Child, Preschool ; Deafness ; Genetic Diseases, Inborn ; Humans ; Hyperplasia ; Male ; Nuclear Family ; Waardenburg Syndrome*

Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf syndrome in 21-year-old male patient who has deafness of the righr ear and hypopigmented patches of whole body since birth. This pigmentary disorder may associate with other systemic abnormalities, we suggest this syndrome belongs to the spectrum of developmental abnormalities.
Deafness* ; Ear ; Humans ; Male ; Parents ; Parturition ; Piebaldism* ; Siblings ; Waardenburg Syndrome ; Young Adult

Woolf syndrome is characterized by piebaldism and congenital deafness. Facial features of Waardenburg syndrome are absent and the parents and siblings are unaffected. We report herein a case of Woolf syndrome in 21-year-old male patient who has deafness of the righr ear and hypopigmented patches of whole body since birth. This pigmentary disorder may associate with other systemic abnormalities, we suggest this syndrome belongs to the spectrum of developmental abnormalities.
Deafness* ; Ear ; Humans ; Male ; Parents ; Parturition ; Piebaldism* ; Siblings ; Waardenburg Syndrome ; Young Adult

BACKGROUNDWaardenburg syndrome type I (WS1) is an autosomal dominant disorder characterized by sensorineural hearing loss, pigmental abnormalities of the eye, hair and skin, and dystopia canthorum. The gene mainly responsible for WS1 is PAX3 which is involved in melanocytic development and survival. Mutations of PAX3 have been reported in familiar or sporadic patients with WS1 in several populations of the world except Chinese. In order to explore the genetic background of Chinese WS1 patients, a mutation screening of PAX3 gene was carried out in four WS1 pedigrees.

METHODSA questionnaire survey and comprehensive clinical examination were conducted in four Chinese pedigrees of WS1. Genomic DNA from each patient and their family members was extracted and exons of PAX3 were amplified by PCR. PCR fragments were ethanol-purified and sequenced in both directions on an ABI_Prism 3100 DNA sequencer with the BigDye Terminator Cycle Sequencing Ready Reaction Kit. The sequences were obtained and aligned to the wild type sequence of PAX3 with the GeneTool program.

RESULTSTwo nonsense PAX3 mutations have been found in the study population. One is heterozygous for a novel nonsense mutation S209X. The other is heterozygous for a previously reported mutation in European population R223X. Both mutations create stop codons leading to truncation of the PAX3 protein.

CONCLUSIONSThis is the first demonstration of PAX3 mutations in Chinese WS1 patients and one of the few examples of an identical mutation of PAX3 occurred in different populations.