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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
Scanning Tips
TERMINOLOGY
Abbreviations
- Greenberg skeletal dysplasia (GSD)
Synonyms
- Hydrops, ectopic calcification, moth-eaten (HEM) bones skeletal dysplasia
Definitions
- Life-limiting osteochondrodysplasia
- Characterized by micromelia, hydrops, and moth-eaten appearance of bones with ectopic calcification
- Life-limiting osteochondrodysplasia
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Kumble S et al: Chondrodysplasia punctata 2, X-linked. In: Adam MP et al: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55062. Published 2011. Updated Jan 9, 2020. Accessed Feb 26, 2020.
- Giorgio E et al: A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: an instructive example of one gene-multiple phenotypes. Am J Med Genet A. 179(2):306-11, 2019
- Rossi M et al: Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol. 45(7):965-76, 2015
- Lubala TK et al: Greenberg skeletal dysplasia: first reported case in the Democratic Republic of Congo. Pan Afr Med J. 14:55, 2013
- Offiah AC et al: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet. 40(12):e129, 2003
- Horn LC et al: Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn. 20(12):1008-11, 2000
- Chitayat D et al: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Am J Med Genet. 47(2):272-7, 1993
- Greenberg CR et al: A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet. 29(3):623-32, 1988
Related Anatomy
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
Diagnostic Checklist
Scanning Tips
TERMINOLOGY
Abbreviations
- Greenberg skeletal dysplasia (GSD)
Synonyms
- Hydrops, ectopic calcification, moth-eaten (HEM) bones skeletal dysplasia
Definitions
- Life-limiting osteochondrodysplasia
- Characterized by micromelia, hydrops, and moth-eaten appearance of bones with ectopic calcification
- Life-limiting osteochondrodysplasia
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
- Kumble S et al: Chondrodysplasia punctata 2, X-linked. In: Adam MP et al: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK55062. Published 2011. Updated Jan 9, 2020. Accessed Feb 26, 2020.
- Giorgio E et al: A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: an instructive example of one gene-multiple phenotypes. Am J Med Genet A. 179(2):306-11, 2019
- Rossi M et al: Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol. 45(7):965-76, 2015
- Lubala TK et al: Greenberg skeletal dysplasia: first reported case in the Democratic Republic of Congo. Pan Afr Med J. 14:55, 2013
- Offiah AC et al: Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype. J Med Genet. 40(12):e129, 2003
- Horn LC et al: Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity. Prenat Diagn. 20(12):1008-11, 2000
- Chitayat D et al: Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder. Am J Med Genet. 47(2):272-7, 1993
- Greenberg CR et al: A new autosomal recessive lethal chondrodystrophy with congenital hydrops. Am J Med Genet. 29(3):623-32, 1988
