title: Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?
abstract: The ectodermal dysplasias (ED) are a large and complex group of diseases characterized by anomalies of the ectoderm and its derivates, often associated with malformations in other organs. We report a patient with an ectodermal dysplasia affecting hair, teeth, and nails and malformations of all four extremities including absence of several rays in the hands and feet. This patient shares many similarities with odontotrichomelic syndrome, a rare ectodermal dysplasia syndrome that has so far only been described in three individuals. However, some differences exist and this patient might also represent a separate ectodermal dysplasia syndrome. p63, a gene that is mutated in a number of syndromes associated with ectodermal dysplasia and limb malformations, was considered a possible candidate gene. However, no mutation in p63 was identified.
authors.affiliation: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
authors.forename: Andreas
authors.initials: A
authors.lastname: Zankl
authors.affiliation: Department of Human Genetics, University Medical Centre, Nijmegen, The Netherlands.
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.affiliation: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
mesh_terms: D000328:Adult; D001132:Arm / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D004268:DNA-Binding Proteins; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005500:Follow-Up Studies; D005545:Forefoot, Human / Q000002:abnormalities / Q000000981:diagnostic imaging; D016147:Genes, Tumor Suppressor; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics*; D011859:Radiography; D017422:Sequence Analysis, DNA; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins
chemical_list: D004268:DNA-Binding Proteins; D010750:Phosphoproteins; C115051:TP63 protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D025521:Tumor Suppressor Proteins