Literature DB >> 12210303

Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature.

Zoran Trajkovski1, Miodrag Vrcakovski, Jordan Saveski, Zoran S Gucev.   

Abstract

A second pregnancy of young, nonconsanguineous parents of Macedonian ethnic origin was examined by ultrasound. Polyhydramnios and hydrops fetalis were found as well as severe short limb, short stature, and cystic hygroma of the neck. An artificial abortion was performed at the age of 23 weeks. The radiological features included moth-eaten severely shortened long bones and ectopic calcifications of long bones, vertebral column, ribs, pelvis, larynx, trachea. In addition, the fetus had large head with depressed nasal bridge, severe platyspondyly, and short barrel-shaped trunk. Light microscopy demonstrated lack of chondrocyte columns and disorganization of the cartilaginous architecture. This is the seventh reported case of this rare form of lethal skeletal dysplasia. Copyright 2002 Wiley-Liss, Inc.

Entities:  

Mesh:

Substances:

Year:  2002        PMID: 12210303     DOI: 10.1002/ajmg.10578

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


  6 in total

Review 1.  Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Authors:  Massimiliano Rossi; Christine M Hall; Raymonde Bouvier; Sophie Collardeau-Frachon; Frédérique Le Breton; Martine Bucourt; Marie Pierre Cordier; Christine Vianey-Saban; Giancarlo Parenti; Generoso Andria; Martine Le Merrer; Patrick Edery; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2015-02-03

2.  Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein.

Authors:  Peter Clayton; Björn Fischer; Anuska Mann; Sahar Mansour; Eva Rossier; Markus Veen; Christine Lang; Sevjidmaa Baasanjav; Moritz Kieslich; Katja Brossuleit; Sophia Gravemann; Nele Schnipper; Mohsen Karbasyian; Ilja Demuth; Monika Zwerger; Amparo Vaya; Gerd Utermann; Stefan Mundlos; Sigmar Stricker; Karl Sperling; Katrin Hoffmann
Journal:  Nucleus       Date:  2010-05-21       Impact factor: 4.197

3.  Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo.

Authors:  Toni Kasole Lubala; Nina Lubala; Arthur Ndundula Munkana; Adonis Muganza Nyenga; Augustin Mulangu Mutombo
Journal:  Pan Afr Med J       Date:  2013-02-11

Review 4.  Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF): more common than assumed? Report of four cases with transient NIHF and a review of the literature.

Authors:  Catharina Whybra; Eugen Mengel; Alexandra Russo; Franz Bahlmann; Christoph Kampmann; Michael Beck; Elke Eich; Eva Mildenberger
Journal:  Orphanet J Rare Dis       Date:  2012-11-08       Impact factor: 4.123

5.  The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.

Authors:  Pei-Ling Tsai; Chenguang Zhao; Elizabeth Turner; Christian Schlieker
Journal:  Elife       Date:  2016-06-23       Impact factor: 8.140

Review 6.  Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.

Authors:  Alexandre Janin; Delphine Bauer; Francesca Ratti; Gilles Millat; Alexandre Méjat
Journal:  Orphanet J Rare Dis       Date:  2017-08-30       Impact factor: 4.123

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.