Literature DB >> 2773987

Skeletal dysplasia syndrome with progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes: a variant example of the Lenz-Majewski syndrome.

K H Chrzanowska1, J P Fryns, M Krajewska-Walasek, H Van den Berghe, L Wisniewski.   

Abstract

Here we report a 10 year-old mentally retarded, deaf boy with a unique pattern of anomalies: progeroid appearance, characteristic facial and limb anomalies, multiple synostoses, and distinct skeletal changes. He represents a variant example of "hyperostotic dwarfism" as delineated by Lenz and Majewski.

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Year:  1989        PMID: 2773987     DOI: 10.1002/ajmg.1320320407

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


  4 in total

1.  Lenz-Majewski syndrome: How a single mutation leads to complex changes in lipid metabolism.

Authors:  Mira Sohn; Tamas Balla
Journal:  J Rare Dis Res Treat       Date:  2016-12-29

2.  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

3.  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

4.  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

  4 in total

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