Literature DB >> 15194948

Expanding the phenotypic spectrum of Lenz-Majewski syndrome: facial palsy, cleft palate and hydrocephalus.

Duangrurdee Wattanasirichaigoon1, Anannit Visudtibhan, Suphaneewan Jaovisidha, Jiraporn Laothamatas, Amornsri Chunharas.   

Abstract

We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.

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Year:  2004        PMID： 15194948     DOI： 10.1097/01.mcd.0000127468.11641.b7

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  7 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.  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

4.  Craniovertebral junction stenosis in Lenz-Majewski syndrome.

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

5.  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

6.  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

7.  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
  7 in total

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