Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia
Other Names for this Disease
- Autosomal recessive lethal chondrodystrophy with congenital hydrops
- Greenberg dysplasia
- Greenberg skeletal dysplasia
- HEM dysplasia
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Tests & Diagnosis
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.
Last updated: 7/16/2009
- 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;
- Madazli R, Aksoy F, Ocak V, Atasu T. Detailed ultrasonographic findings in Greenberg dysplasia. Prenat Diagn. 2001;
- 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.