scholarly journals Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Sensorineural Deafness ◽  
Palmoplantar Hyperkeratosis ◽  
Knuckle Pads

scholarly journals Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

2003 ◽  
Vol 26 (2) ◽  
pp. 129-131 ◽  
Author(s):  
Gisele Viana de Oliveira ◽  
Carlos Eduardo Steiner ◽  
Maria Letícia Cintra ◽  
Antonia Paula Marques-de-Faria
Keyword(s):  
Palmoplantar Hyperkeratosis ◽  
Knuckle Pads

A case of hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome in a boy carrying a novel mutation of GATA3 gene

2020 ◽  
Author(s):  
Laura Mazoni ◽  
Matteo Apicella ◽  
Simona Borsari ◽  
Chiara Banti ◽  
Angela Michelucci ◽  
...  
Keyword(s):  
Renal Disease ◽  
Novel Mutation ◽  
Sensorineural Deafness ◽  
Hdr Syndrome

Skin ultrasound as diagnostic support for the knuckle pads in unusual locations

2015 ◽  
Vol 100 (794) ◽  
pp. 51-52
Author(s):  
Israel Pérez-López ◽  
Cristina Garrido-Colmenero ◽  
Gonzalo Blasco-Morente ◽  
Ricardo Ruiz-Villaverde ◽  
Jesús Tercedor-Sánchez
Keyword(s):  
Knuckle Pads ◽  
Skin Ultrasound ◽  
Diagnostic Support

scholarly journals Periodontal Manifestations in a Patient with Haim-Munk Syndrome

2010 ◽  
Vol 04 (03) ◽  
pp. 338-340
Author(s):  
Kamile Erciyas ◽  
Serhat Inaloz ◽  
A. Fuat Erciyas
Keyword(s):  
Autosomal Recessive ◽  
Alveolar Bone ◽  
Bone Destruction ◽  
Autosomal Recessive Disorder ◽  
Aggressive Periodontitis ◽  
Pes Planus ◽  
Rare Autosomal Recessive Disorder ◽  
Rare Anomaly ◽  
Palmoplantar Hyperkeratosis

Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. Consanguinity seems a notable prerequisite. The aim of this study was therefore to report one case of this syndrome and to focus on the periodontal manifestations, in order to attract the attention of dental clinicians to this rare anomaly. (Eur J Dent 2010;4:338-340)

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