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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia


Other Names for this Disease
  • HEM
  • HEM dysplasia
  • HEM/Greenberg dysplasia
  • Greenberg skeletal dysplasia
  • Greenberg dysplasia
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Tests & Diagnosis

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How is HEM diagnosed?

Establishing a diagnosis of HEM prenatally can be difficult and may require the interaction between a perinatologist, geneticist, and fetal/neonatal pathologist. Clinical examination, radiographs, genetic testing, and autopsy may be performed in order to establish a diagnosis of HEM.[1][2]
Last updated: 7/16/2009

References
  1. 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;
  2. Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001;


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • HEM
  • HEM dysplasia
  • HEM/Greenberg dysplasia
  • Greenberg skeletal dysplasia
  • Greenberg dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.