• Title/Summary/Keyword: Waardenburg syndrome

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IV Deep Sedation Management of Waardenburg Syndrome Child during Dental Treatment - A case report - (Waardenburg Syndrome 환아의 치과치료를 위한 정주 깊은 진정법 -증례보고-)

  • Kim, Seung-Oh
    • Journal of The Korean Dental Society of Anesthesiology
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    • v.6 no.1 s.10
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    • pp.6-12
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    • 2006
  • IV Deep sedation is useful for Waardenburg syndrome Child undergoing extensive dental treatment. We experienced a case of dental treatment under W deep sedation in a 3 years old boy with Waardenburg syndrome. He was treated on an outpateint basis. He was diagnosed hypothyroidism and received thyroid hormone. Premedication was done using ketamine and atropine IM. Induction using $N_2O$-enflurane mask ventilation was uneventful and intravenous cathetering was carried out. IV deep sedation was maintained with midazolam-$N_2O$ combination. After monitoring the patient for 2 hours and confirming his recovery, he was discharged from the day care unit. In summary, we report this successful IV Deep sedation management of Waardenburg syndrome child during dental treatment in as out patient.

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3 Cases of Waardenburgs Syndrome (Waardenburg 증후군의 3예)

  • 김기령;김영명;조경열;이만웅;박기현;김상기
    • Proceedings of the KOR-BRONCHOESO Conference
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    • 1978.06a
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    • pp.8.1-8
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    • 1978
  • Waardenburgs syndrome is estimated to account for 1 to 7% of all congenital deafness. The primary features of the syndrome include lateral displacement of the medial canthi and lacrimal punctae, a flat nasal root, white forelock, unilateral or bilateral congenital deafness, some degree of heterochromia of the iris, and hyperplasia of the eyebrow. This syndrome was described at first by Waardenburg in 1951, and since that time there have been reports of the same syndrome in both the English (Partington, 1959) and American (Di George) literature. The authors have experienced 3 cases of Waardenburgs syndrom, and report these cases with literature review.

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Oblique transnasal wiring canthopexy via Y-V epicanthoplasty for telecanthus correction in a patient with Waardenburg syndrome

  • Choi, Bong Gyu;Kim, Yong-Ha
    • Archives of Craniofacial Surgery
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    • v.20 no.5
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    • pp.329-331
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    • 2019
  • Telecanthus is a common symptom accompanied by Waardenburg syndrome, a rare genetic disorder. The optimal surgery for telecanthus correction is still debated. A 28-year-old patient with Waardenburg syndrome underwent transnasal wiring canthopexy using a Y-V epicanthoplasty for telecanthus correction. A Mini-Monoka stent was used to prevent damage to the lacrimal apparatus. The intercanthal distance decreased from 50 mm to 43.2 mm. The easily designed Y-V epicanthoplasty incision provides sufficient operative field for oblique transnasal wiring, which is effective in properly positioning the medial canthal tendon. It has minimal scarring resulting in satisfactory cosmetic outcomes.

The first Korean case of Waardenburg-Shah syndrome with novel endothelin receptor type B mutations

  • Lee, Eun Sun;Ko, Jung Min;Moon, Jin Su
    • Journal of Genetic Medicine
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    • v.14 no.2
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    • pp.86-89
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    • 2017
  • Waardenburg syndrome (WS) is a rare genetic disorder, including clinical features of pigmentary abnormalities of irides, skin, hair and sensorineural hearing loss and facial dysmorphism. Among the four types, WS type IV (Waardenburg-Shah syndrome) additionally represents Hirschsprung's disease. Mutations in the SOX10, END3, or EDNRB genes are known to cause WS type IV. Here, we report a 6 year-old girl who was diagnosed as WS type IV by typical clinical manifestations, including skin hypopigmentation, heterochromia of both irides, unilateral sensorineural hearing loss, mild developmental delay and Hirschsprung's disease. The diagnosis was confirmed by molecular genetic analysis of EDNRB. Two novel EDNRB mutations were identified, and each mutation was segregated from each of her parents. During the follow-up period, the patient underwent a surgery for spleen torsion and was medically managed due to recurrent enterocolitis. Also, she suffered from impaired immunity including Hirschsprung's associated enterocolitis.

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction

  • Hogan, Anthony R.;Rao, Krishnamurti A.;Thorson, Willa L.;Neville, Holly L.;Sola, Juan E.;Perez, Eduardo A.
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.5
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    • pp.487-492
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    • 2019
  • Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.