Literature DB >> 8456838

ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.

P Propping1, K Zerres.   

Abstract

We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro-dermato-ungual-lacrimal-tooth)-syndrome for this condition.

Entities:  

Mesh:

Year:  1993        PMID: 8456838     DOI: 10.1002/ajmg.1320450525

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  14 in total

Review 1.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

2.  An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation.

Authors:  Katarina Lehmann; Stefan Mundlos; Peter Meinecke
Journal:  Eur J Pediatr       Date:  2005-05-12       Impact factor: 3.183

3.  Severe persistent nasolacrimal duct obstruction: a typical finding in ADULT syndrome.

Authors:  N Eter; K Zerres; P Propping; P Roggenkämper; M Spitznas
Journal:  Br J Ophthalmol       Date:  2006-09       Impact factor: 4.638

4.  Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

Authors:  H van Bokhoven; M Jung; A P Smits; S van Beersum; F Rüschendorf; M van Steensel; M Veenstra; J H Tuerlings; E C Mariman; H G Brunner; T F Wienker; A Reis; H H Ropers; B C Hamel
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

5.  p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors:  H van Bokhoven; B C Hamel; M Bamshad; E Sangiorgi; F Gurrieri; P H Duijf; K R Vanmolkot; E van Beusekom; S E van Beersum; J Celli; G F Merkx; R Tenconi; J P Fryns; A Verloes; R A Newbury-Ecob; A Raas-Rotschild; F Majewski; F A Beemer; A Janecke; D Chitayat; G Crisponi; H Kayserili; J R Yates; G Neri; H G Brunner
Journal:  Am J Hum Genet       Date:  2001-07-17       Impact factor: 11.025

6.  ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Authors:  Tânia Kawasaki de Araujo; Elaine Lustosa-Mendes; Ana P Dos Santos; Miriam Coelho Molck; Roberta Mazzariol Volpe-Aquino; Vera L Gil-da-Silva-Lopes
Journal:  Mol Syndromol       Date:  2017-04-13

Review 7.  Splitting p63.

Authors:  Hans van Bokhoven; Han G Brunner
Journal:  Am J Hum Genet       Date:  2002-05-30       Impact factor: 11.025

Review 8.  Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.

Authors:  G J McKenna; F M Burke; K Mellan
Journal:  Eur Arch Paediatr Dent       Date:  2009-11

Review 9.  Concepts for the treatment of adolescent patients with missing permanent teeth.

Authors:  M Behr; O Driemel; V Mertins; T Gerlach; C Kolbeck; N Rohr; T E Reichert; G Handel
Journal:  Oral Maxillofac Surg       Date:  2008-07

10.  Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes.

Authors:  Valeria Serra; Marco Castori; Mauro Paradisi; Laura Bui; Gerry Melino; Alessandro Terrinoni
Journal:  Am J Med Genet A       Date:  2011-11-08       Impact factor: 2.802

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.