ADULT syndrome caused by a mutation previously associated with EEC Syndrome

Emily Avitan-Hersh*, Margarita Indelman, Reuven Bergman, Eli Sprecher

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Acro-Dermato-Ungual-Lacrimal-Tooth (ADULT) syndrome is a rare autosomal dominant syndrome characterized by ectrodactyly or syndactyly, excessive freckling and dry skin, dysplastic nails, lacrimal duct atresia, primary hypodontia and early loss of permanent teeth. ADULT syndrome is one of five such syndromes that result from mutations in TP63, encoding the transcription factor p63. Until now, only four families and three individuals with ADULT syndrome have been reported in the English literature. We present a 14-year-old female patient with ADULT syndrome and discuss phenotype-genotype correlations in the p63 syndromes.

Original languageEnglish
Pages (from-to)643-645
Number of pages3
JournalPediatric Dermatology
Volume27
Issue number6
DOIs
StatePublished - Nov 2010
Externally publishedYes

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