Fried Tooth and Nail Syndrome with Possible Mutation - A Rare Entity
نویسنده
چکیده
Background: Tooth and Nail Syndrome (TNS) is a rare genetic disorder and one of the common types of Ectodermal Dysplasias (ED). Fried and Witkop Syndromes are two subtypes with similar clinical and radiological features with a difference in the inheritance pattern. ?just state the genetic difference. The condition is particularly of interest to dentists because of the challenges in prosthetic rehabilitation. Case report: This article reports a case of an 8-yearold girl whose parents came with a chief complaint of unerupted permanent teeth. Clinical examination showed the features of a possible syndrome with some missing teeth, thin scalp hairs and eyebrows, everted lips, dysplasia of nails and palmoplantar hyperkeratosis. Orthopantomograph showed missing mandibular primary central and lateral incisors and absence of permanent tooth buds. Based on the clinical findings and autosomal recessive inheritance pattern, the girl was diagnosed of Fried Tooth and Nail syndrome. Conclusion: The present case is a rare occurrence of Fried Tooth and Nail syndrome. Case also presents with palmoplantar hyperkeratosis, which is unusual, suggesting a possibility of mutation of gene responsible for the condition.
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MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
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