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Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome
  1. N Eter1,
  2. K Zerres2,
  3. P Propping3,
  4. P Roggenkämper4,
  5. M Spitznas4
  1. 1Department of Ophthalmology, University of Bonn, Germany
  2. 2Institute of Human Genetics, Technical University of Aachen, Germany
  3. 3Institute of Human Genetics, University of Bonn, Germany
  4. 4Department of Ophthalmology, University of Bonn, Germany
  1. Correspondence to: Nicole Eter MD, Department of Ophthalmology, University of Bonn Medical Center, Ernst-Abbe-Strasse 2, 53127 Bonn, Germany; eter{at}uni-bonn.de

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The acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome was first described in 1993 by Propping and Zerres.1 The main manifestations of the syndrome are ectrodactyly, excessive freckling, onychodysplasia, lacrimal duct obstruction, hypodontia, and/or early loss of permanent teeth. Other clinical signs may include frontal alopecia, syndactyly, hypoplastic nipples and breasts, and typical neurodermitic signs such as exfoliative dermatitis of the fingers and toes. It belongs to the group of developmental disorders (EEC, ectrodactyly, ectodermal dysplasia; cleft palate syndrome; LMS, limb mammary syndrome; UMS, ulnar-mammary syndrome) that are based on mutations in the TP63 gene.2 Propping and Zerres1 have traced symptoms of ADULT syndrome through five generations of one particular family. The expression of the described clinical signs is variable. A linkage study had mapped the gene to chromosomal region 3q27 where the gene of LMS had been located.3,4 The responsible gene proved to be TP63.5 Except for this particular family the ADULT syndrome has so far only been described in four single non-related …

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