Hydrops-ectopic calcification-moth-eaten skeletal dysplasia explained

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Synonyms:	Greenberg dysplasia,^[1] HEM dysplasia, autosomal recessive lethal chondrodystrophy with congenital hydrops^[2]
Field:	Medical genetics
Differential:	severe hydrops fetalis, phokomelia on antenatal songraphy^[3]

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis.^[4] Greenberg characterized the condition in 1988.^[5]

It has been associated with the lamin B receptor.^[6]

Signs and Symptoms

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia causes the bones in a fetus to develop abnormally. This leads to a characteristic "moth eaten" appearance of the bones when viewed under an X-ray. Micromelia, polydactyly and ectopic calcification, or the built up of calcium in the soft tissues of the body, may all occur. Eighty to ninety nine percent of effected individuals will have abnormally ossified vertebrae, abnormal pelvis bone ossification, anterior rib punctate calcifications and brachydactyly.^[7]

The second defining feature of hydrops-ectopic calcification-moth-eaten skeletal dysplasia is hydrops fetalis.^[8]

See also

• Ectopic calcification
• Hydrops

Notes and References

1. Trajkovski Z, Vrcakovski M, Saveski J, Gucev ZS . Greenberg dysplasia (hydrops-ectopic calcification-moth-eaten skeletal dysplasia): prenatal ultrasound diagnosis and review of literature . Am. J. Med. Genet. . 111 . 4 . 415–9 . September 2002 . 12210303 . 10.1002/ajmg.10578.
2. Web site: Greenberg dysplasia. National Organisation for Rare Disorders. June 23, 2021.
3. Web site: Greenberg dysplasia. Rarediseases.org. June 23, 2021.
4. Herman GE . Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes . Hum. Mol. Genet. . Spec No 1 . 90001. R75–88 . 12 . April 2003 . 12668600 . 10.1093/hmg/ddg072. free .
5. Greenberg CR, Rimoin DL, Gruber HE, DeSa DJ, Reed M, Lachman RS . A new autosomal recessive lethal chondrodystrophy with congenital hydrops . Am. J. Med. Genet. . 29 . 3 . 623–32 . March 1988 . 3377005 . 10.1002/ajmg.1320290321 .
6. Konstantinidou A, Karadimas C, Waterham HR, etal . Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia . Prenat. Diagn. . 28 . 4 . 309–12 . April 2008 . 18382993 . 10.1002/pd.1976.
7. Web site: Greenberg dysplasia. National Organisation for Rare Disorders. June 23, 2021.
8. Web site: Greenberg dysplasia. Orphanet. June 23, 2021.