Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
- HEM dysplasia
- HEM/Greenberg dysplasia
- Greenberg skeletal dysplasia
- Greenberg dysplasia
Your QuestionSince my daughter passed from HEM, I have checked the leading publications for news of Greenburg's dysplasia. I am both happy and perplexed at the lack of mention. Are there truly only a handful of cases? Has this horrible condition not captured the eye of the research community? I was told that my daughter's death (after three weeks in the NICU) was due to this extraordinary mutation, and that her survival (although short) was beyond expectation. I am desperately looking for more information. Both my husband and I are carriers for the mutation and have many siblings. Our siblings have concerns over the prevalence of this mutation. I am not a medical professional. I would appreciate any response in "layman's terms" please.
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What is HEM?
- What are the signs and symptoms of HEM?
- What causes HEM?
- How is HEM diagnosed?
- Is carrier testing available for people who have other family members who are carriers or who have been affected with HEM?
- How can my family members determine their chances of having a child with HEM?
- What is the prognosis for HEM?
- Are there truly only a handful of cases of HEM?
- Has this horrible condition not captured the eye of the research community?
To determine one's chances of having a child with HEM, we recommend scheduling a genetics consultation with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral.
The following online resources can also help you find a genetics professional in your community:
* GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
* Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
- Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001;
- Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M et al. Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenat Diagnosis. 2008;
- LBR - lamin B receptor. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=lbr#location. Accessed 7/15/2009.
- Worman HJ, Bonne G. "Laminopathies": A wide spectrum of human diseases. Experimental Cell Research. 2007;