Hydrops-ectopic calcification-moth-eaten skeletal dysplasia

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia is a defect in cholesterol biosynthesis.[2] Greenberg characterized the condition in 1988.[3]

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Other namesGreenberg dysplasia'.[1]
This condition is inherited in an autosomal recessive manner

It has been associated with the lamin B receptor.[4]

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. 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.
  3. 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.
  4. 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.



Classification
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