Literature DB >> 12558109

Hypertrichosis cubiti: two new cases and a review of the literature.

R Visser1, F A Beemer, R H Veenhoven, J J E M De Nef.   

Abstract

Two cases of hypertrichosis cubiti in combination with short stature, facial dysmorphias and retarded development are reported with a review of the literature. Hypertrichosis cubiti, the hairy elbows syndrome, consists of a localized form of long vellus hair on the extensor surfaces of the distal third of the upper arm and the proximal third of the forearm bilaterally. It can be associated with short stature and other physical abnormalities. The mode of inheritance has not been established yet; an autosomal recessive as well as an autosomal dominant inheritance trait are postulated.

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Year:  2002        PMID: 12558109

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  6 in total

1.  Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Authors:  Dora Steel; Vincenzo Salpietro; Rahul Phadke; Matthew Pitt; Giulia Gentile; Ahmed Massoud; Leigh Batten; Anu Bashamboo; Ken Mcelreavey; Anand Saggar; Maria Kinali
Journal:  J Genet       Date:  2015-12       Impact factor: 1.166

Review 2.  Intellectual Disability: When the Hypertrichosis Is a Clue.

Authors:  Lidia Pezzani; Donatella Milani; Gianluca Tadini
Journal:  J Pediatr Genet       Date:  2015-09-28

3.  Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

Authors:  Bo Yuan; Davut Pehlivan; Ender Karaca; Nisha Patel; Wu-Lin Charng; Tomasz Gambin; Claudia Gonzaga-Jauregui; V Reid Sutton; Gozde Yesil; Sevcan Tug Bozdogan; Tulay Tos; Asuman Koparir; Erkan Koparir; Christine R Beck; Shen Gu; Huseyin Aslan; Ozge Ozalp Yuregir; Khalid Al Rubeaan; Dhekra Alnaqeb; Muneera J Alshammari; Yavuz Bayram; Mehmed M Atik; Hatip Aydin; B Bilge Geckinli; Mehmet Seven; Hakan Ulucan; Elif Fenercioglu; Mustafa Ozen; Shalini Jhangiani; Donna M Muzny; Eric Boerwinkle; Beyhan Tuysuz; Fowzan S Alkuraya; Richard A Gibbs; James R Lupski
Journal:  J Clin Invest       Date:  2015-01-09       Impact factor: 14.808

4.  De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Authors:  Wendy D Jones; Dimitra Dafou; Meriel McEntagart; Wesley J Woollard; Frances V Elmslie; Muriel Holder-Espinasse; Melita Irving; Anand K Saggar; Sarah Smithson; Richard C Trembath; Charu Deshpande; Michael A Simpson
Journal:  Am J Hum Genet       Date:  2012-07-12       Impact factor: 11.025

5.  De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

Authors:  Samuel P Strom; Reymundo Lozano; Hane Lee; Naghmeh Dorrani; John Mann; Patricia F O'Lague; Nicole Mans; Joshua L Deignan; Eric Vilain; Stanley F Nelson; Wayne W Grody; Fabiola Quintero-Rivera
Journal:  BMC Med Genet       Date:  2014-05-01       Impact factor: 2.103

6.  Hypertrichosis cubiti, a case report and literature review.

Authors:  Vivian E T Tng; Sally de Zwaan
Journal:  Clin Case Rep       Date:  2015-12-09
  6 in total

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