Literature DB >> 2773989

Hypertrichosis cubiti.

D B Flannery1, S M Fink, G Francis, P A Gilman.   

Abstract

Hypertrichosis is an unusual but well-recognized genetic condition. Hypertrichosis may be generalized or limited to specific body areas, in which case it is usually not associated with other anomalies. Five previous cases of hypertrichosis cubiti have been reported, with short stature in 2 sibs being the only other associated abnormalities. We report on a child with hairy elbows, developmental delay, facial asymmetry, and delayed speech with normal parents. Our patient may represent severe expression of the hairy elbow syndrome or constitute a previously unrecognized syndrome.

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Year:  1989        PMID: 2773989     DOI: 10.1002/ajmg.1320320410

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


  5 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.  Reprogramming of the epigenome in neurodevelopmental disorders.

Authors:  Khadija D Wilson; Elizabeth G Porter; Benjamin A Garcia
Journal:  Crit Rev Biochem Mol Biol       Date:  2021-10-02       Impact factor: 8.697

3.  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

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

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

5.  Syringomyelia and Bone Malformations in the Setting of Hypertrichosis Cubiti (Hairy Elbow Syndrome).

Authors:  Vito Pavone; Gianluca Testa; Raffaele Falsaperla; Giuse Sessa
Journal:  J Orthop Case Rep       Date:  2015 Apr-Jun
  5 in total

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