Literature DB >> 3314510

Further delineation of the 3-M syndrome with review of the literature.

R C Hennekam1, J B Bijlsma, J Spranger.   

Abstract

The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies. Intelligence seems normal. Inheritance is probably autosomal recessive, with possible expression of the mutant gene in the heterozygote. Three sibs with the 3-M syndrome are reported, together with an extensive review of the pertinent literature.

Entities:  

Mesh：

Year:  1987        PMID： 3314510     DOI： 10.1002/ajmg.1320280127

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


  8 in total

1.  Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

Authors:  M Le Merrer; R Brauner; P Maroteaux
Journal:  J Med Genet       Date:  1991-03       Impact factor: 6.318

2.  Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia.

Authors:  N Maksimova; K Hara; A Miyashia; I Nikolaeva; A Shiga; A Nogovicina; A Sukhomyasova; V Argunov; A Shvedova; T Ikeuchi; M Nishizawa; R Kuwano; O Onodera
Journal:  J Med Genet       Date:  2007-08-03       Impact factor: 6.318

3.  A large-scale mutation search reveals genetic heterogeneity in 3M syndrome.

Authors:  Céline Huber; Anee-Lise Delezoide; Fabien Guimiot; Clarisse Baumann; Valérie Malan; Martine Le Merrer; Daniela Bezerra Da Silva; Dominique Bonneau; Pierre Chatelain; Carol Chu; Robin Clark; Helen Cox; Patrick Edery; Thomas Edouard; Virginia Fano; Kate Gibson; Gabriele Gillessen-Kaesbach; Maria-Luisa Giovannucci-Uzielli; Luitgard Margarete Graul-Neumann; Johana-Maria van Hagen; Liselot van Hest; Dafne Horovitz; Judith Melki; Carl-Joachim Partsch; Henry Plauchu; Anna Rajab; Massimiliano Rossi; David Sillence; Elisabeth Steichen-Gersdorf; Helen Stewart; Sheila Unger; Martin Zenker; Arnold Munnich; Valérie Cormier-Daire
Journal:  Eur J Hum Genet       Date:  2008-10-29       Impact factor: 4.246

4.  3-M syndrome and intracerebral aneurysms.

Authors:  R C Hennekam; M Limburg; G Pals
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

5.  The 3-M syndrome: risk of intracerebral aneurysm?

Authors:  R F Mueller; J Buckler; R Arthur; G Bonsor; P Dear; K Walters; G M Towns
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

6.  Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huët anomaly.

Authors:  Nadezda Maksimova; Kenju Hara; Irina Nikolaeva; Tan Chun-Feng; Tomoaki Usui; Mineo Takagi; Yasushi Nishihira; Akinori Miyashita; Hiroshi Fujiwara; Tokuhide Oyama; Anna Nogovicina; Aitalina Sukhomyasova; Svetlana Potapova; Ryozo Kuwano; Hitoshi Takahashi; Masatoyo Nishizawa; Osamu Onodera
Journal:  J Med Genet       Date:  2010-06-24       Impact factor: 6.318

7.  3M syndrome: a report of four cases in two families.

Authors:  Ayla Güven; Ayşe Nurcan Cebeci
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011

8.  Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.

Authors:  Nao Takizaki; Yoshinori Tsurusaki; Kaoru Katsumata; Yumi Enomoto; Hiroaki Murakami; Koji Muroya; Hiroshi Ishikawa; Noriko Aida; Gen Nishimura; Kenji Kurosawa
Journal:  Hum Genome Var       Date:  2020-02-04
  8 in total

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