Literature DB >> 11180245

Detailed ultrasonographic findings in Greenberg dysplasia.

R Madazli1, F Aksoy, V Ocak, T Atasü.   

Abstract

A case of Greenberg dysplasia [hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia (HEM)] is presented. Fetal ultrasonography at 20 weeks' gestation showed hydrops fetalis, severe micromelia, irregular hyperechogenic foci in the ribs and vertebral bodies, irregular hypo- and hyperechogenic areas and abnormal contour within the long bones, and flattened and "T"-shaped appearance of the vertebrae. Findings on postmortem histological and radiographic examination were consistent with Greenberg dysplasia. Copyright 2001 John Wiley & Sons, Ltd.

Entities:  

Mesh:

Year:  2001        PMID: 11180245

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  1 in total

1.  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

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.