A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders.

Abstract

BACKGROUND:

Greenberg dysplasia is a rare, autosomal recessive, prenatal lethal bone dysplasia caused by biallelic pathogenic variants in the lamin B receptor (LBR) gene. Pathogenic variants in LBR are also associated with Pelger-Huët anomaly, an autosomal dominant benign abnormality of the nuclear shape and chromatin organization of blood granulocytes, and Pelger-Huët anomaly with variable skeletal anomalies, a mild, regressing to moderate-severe autosomal recessive condition. Conditions with abnormal sterol metabolism and different genetic basis have clinical and radiographic features similar to Greenberg dysplasia, for example X-linked dominant chondrodysplasia punctata, Conradi-Hünermann type, and CHILD syndrome, and other conditions with unknown genetic etiology display very similar features, for example, dappled diaphyseal dysplasia and Astley-Kendall dysplasia.

METHODS:

We present a fetus with typical clinical and radiographic features of Greenberg dysplasia, and review the literature.

RESULTS:

Genetic testing confirmed the diagnosis Greenberg dysplasia: homozygosity for a pathogenic variant in LBR.

CONCLUSION:

Comparing the clinical and radiographic phenotypes of Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia, we suggest that these are allelic disorders.

• Authors: Pernille A Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 8 Issue 6 Pg. e1173 (06 2020) ISSN: 2324-9269 [Electronic] United States
• PMID: 32304187 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

Chemical References

• Receptors, Cytoplasmic and Nuclear
• lamin B receptor

Topics

• Adult
• Alleles
• Chondrodysplasia Punctata (diagnostic imaging, genetics, pathology)
• Dwarfism (diagnostic imaging, genetics, pathology)
• Female
• Fetus (pathology)
• Homozygote
• Humans
• Osteochondrodysplasias (diagnostic imaging, genetics, pathology)
• Osteogenesis Imperfecta (diagnostic imaging, genetics, pathology)
• Phenotype
• Pregnancy
• Receptors, Cytoplasmic and Nuclear (genetics)