Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
- Autosomal recessive lethal chondrodystrophy with congenital hydrops
- Greenberg dysplasia
- Greenberg skeletal dysplasia
- HEM dysplasia
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Since 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. Click here for answer