Literature DB >> 2738900

Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

K D MacDermot1, M A Patton, M J Williams, R M Winter.   

Abstract

We report four patients with hypertrichosis cubiti who were referred for investigation of short stature. Two males, whose height was on and just below the 3rd centile respectively, were sporadic cases and two females with disproportionate short stature were mother and daughter. Radiological changes present in the familial cases were non-specific and biochemical investigations were normal. Of the four other published cases, two were sporadic and of normal height. The other two were sibs with short stature and their parents were heterozygous for the Weill-Marchesani syndrome. We were unable to ascertain whether hypertrichosis cubiti cosegregates with the same type of skeletal dysplasia or elucidate the type of genetic transmission of hypertrichosis cubiti alone.

Entities:  

Mesh:

Year:  1989        PMID: 2738900      PMCID: PMC1015623          DOI: 10.1136/jmg.26.6.382

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  3 in total

1.  Hairy elbows.

Authors:  V C Andreev; L Stransky
Journal:  Arch Dermatol       Date:  1979-06

2.  Hairy elbows.

Authors:  R I Rudolph
Journal:  Cutis       Date:  1985-07

3.  Familial hypertrichosis cubiti: hairy elbows syndrome.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1970-06       Impact factor: 6.318

  3 in total
  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

Review 3.  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

4.  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

5.  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.  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
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.