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Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Other namesGreenberg dysplasia,[1] HEM dysplasia, autosomal recessive lethal chondrodystrophy with congenital hydrops[2]
Child with hydrops-ectopic calcification-moth-eaten skeletal dysplasia
SpecialtyMedical genetics
Differential diagnosissevere 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

An infant with hydrops-ectopic calcification-moth-eaten skeletal dysplasia showing shortened limbs

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

References

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


Quelle: http://en.wikipedia.org/wiki/Hydrops-ectopic_calcification-moth-eaten_skeletal_dysplasia