Literature DB >> 3927724

A distinctive facial appearance in neurofibromatosis von Recklinghausen.

P Kaplan, B Rosenblatt.   

Abstract

Three children with neurofibromatosis from two unrelated families have unusual facial appearance due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin. The two boys have large hands and feet, and one is very tall. There were some facial and dermatoglyphic similarities to individuals with the Noonan syndrome, but the manifestations in the children reported here are sufficiently different to suggest the presence of a different type of neurocristopathy in these individuals.

Entities:  

Mesh：

Year:  1985        PMID： 3927724     DOI： 10.1002/ajmg.1320210308

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


  8 in total

1.  Absence of linkage of Noonan syndrome to the neurofibromatosis type 1 locus.

Authors:  M Sharland; R Taylor; M A Patton; S Jeffery
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

2.  Familial neurofibromatosis type 1 associated with an overgrowth syndrome resembling Weaver syndrome.

Authors:  C J van Asperen; W C Overweg-Plandsoen; M H Cnossen; D A van Tijn; R C Hennekam
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

Review 3.  Noonan syndrome.

Authors:  J E Allanson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

4.  Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.

Authors:  Gunjan Jain; Vaibhav Kumar Jain; Indra Kumar Sharma; Reena Sharma; Neeraj Saraswat
Journal:  J Clin Diagn Res       Date:  2016-11-01

5.  Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Authors:  H J Stern; H M Saal; J S Lee; P R Fain; D E Goldgar; K N Rosenbaum; D F Barker
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

Review 6.  Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.

Authors:  K A Mensink; R P Ketterling; H C Flynn; R A Knudson; N M Lindor; B A Heese; R J Spinner; D Babovic-Vuksanovic
Journal:  J Med Genet       Date:  2006-02       Impact factor: 6.318

7.  NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

Authors:  Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2005-10-26       Impact factor: 11.025

8.  Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

Authors:  Doğuş Vurallı; Nazlı Gönç; Dominique Vidaud; Alev Özön; Ayfer Alikaşifoğlu; Nurgün Kandemir
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12-18
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.