Literature DB >> 10946362

Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

F Majewski1.   

Abstract

In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This disorder was later named Lenz-Majewski hyperostotic dwarfism. We describe the reexamination of the original patient at the age of 30 years.

Entities:  

Mesh：

Year:  2000        PMID： 10946362     DOI： 10.1002/1096-8628(20000814)93:4<335::aid-ajmg14>3.0.co;2-5

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


  8 in total

1.  [Bright ocular background with profound cutis laxa and large fontanelles].

Authors:  I Marjanovic; B Seitz; B Käsmann-Kellner
Journal:  Ophthalmologe       Date:  2015-01       Impact factor: 1.059

Review 2.  Human Genetics of Sclerosing Bone Disorders.

Authors:  Raphaël De Ridder; Eveline Boudin; Geert Mortier; Wim Van Hul
Journal:  Curr Osteoporos Rep       Date:  2018-06       Impact factor: 5.096

3.  Craniovertebral junction stenosis in Lenz-Majewski syndrome.

Authors:  Koichi Mizuguchi; Osamu Miyazaki; Gen Nishimura; Akira Ishigro
Journal:  Pediatr Radiol       Date:  2015-03-17

4.  A Japanese patient with a mild Lenz-Majewski syndrome.

Authors:  Sumito Dateki; Tatsuro Kondoh; Gen Nishimura; Katsuaki Motomura; Koh-Ichiro Yoshiura; Akira Kinoshita; Hideo Kuniba; Yoshiyuki Koga; Hiroyuki Moriuchi
Journal:  J Hum Genet       Date:  2007-06-26       Impact factor: 3.172

5.  Analysis of transgenic zebrafish expressing the Lenz-Majewski syndrome gene PTDSS1 in skeletal cell lineages.

Authors:  Marian Seda; Emma Peskett; Charalambos Demetriou; Dale Bryant; Gudrun E Moore; Philip Stanier; Dagan Jenkins
Journal:  F1000Res       Date:  2019-03-11

6.  Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Authors:  Sérgio B Sousa; Dagan Jenkins; Estelle Chanudet; Guergana Tasseva; Miho Ishida; Glenn Anderson; James Docker; Mina Ryten; Joaquim Sa; Jorge M Saraiva; Angela Barnicoat; Richard Scott; Alistair Calder; Duangrurdee Wattanasirichaigoon; Krystyna Chrzanowska; Martina Simandlová; Lionel Van Maldergem; Philip Stanier; Philip L Beales; Jean E Vance; Gudrun E Moore
Journal:  Nat Genet       Date:  2013-11-17       Impact factor: 38.330

Review 7.  Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

Authors:  Juliette Piard; James Lespinasse; Marketa Vlckova; Martin A Mensah; Sorin Iurian; Martina Simandlova; Marcela Malikova; Oliver Bartsch; Massimiliano Rossi; Marion Lenoir; Frédérique Nugues; Stefan Mundlos; Uwe Kornak; Philip Stanier; Sérgio B Sousa; Lionel Van Maldergem
Journal:  Am J Med Genet A       Date:  2018-01-17       Impact factor: 2.802

Review 8.  The Genetic Architecture of High Bone Mass.

Authors:  Celia L Gregson; Emma L Duncan
Journal:  Front Endocrinol (Lausanne)       Date:  2020-10-29       Impact factor: 5.555
  8 in total

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