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Osteogenesis imperfecta, recessive perinatal lethal

MedGen UID:
82796
•Concept ID:
C0268360
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Osteogenesis imperfecta, type II, recessive form; Osteogenesis imperfecta, Vrolik type; Porak-Durante syndrome; Vrolik disease
SNOMED CT: Osteogenesis imperfecta, recessive perinatal lethal (86470003); Vrolik disease (86470003); Osteogenesis imperfecta, type II, recessive form (86470003); Porak-Durante syndrome (86470003); Osteogenesis imperfecta, Vrolik type (86470003)

Professional guidelines

PubMed

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE
Hum Mol Genet 2009 Feb 1;18(3):463-71. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn374. PMID: 18996919Free PMC Article

Recent clinical studies

Etiology

What is new in genetics and osteogenesis imperfecta classification?
Valadares ER, Carneiro TB, Santos PM, Oliveira AC, Zabel B
J Pediatr (Rio J) 2014 Nov-Dec;90(6):536-41. Epub 2014 Jul 18 doi: 10.1016/j.jped.2014.05.003. PMID: 25046257
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH
Genet Med 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. PMID: 21239989
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE
Hum Mol Genet 2009 Feb 1;18(3):463-71. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn374. PMID: 18996919Free PMC Article
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.
Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL
Am J Med Genet 1986 Mar;23(3):821-32. doi: 10.1002/ajmg.1320230309. PMID: 3953678

Diagnosis

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Ježová M, Pavlovská D, Grochová I, Michenková A, Vlašín P
Cesk Patol 2023 Summer;59(2):68-79. PMID: 37468326
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM
Fetal Pediatr Pathol 2013 Oct;32(5):319-25. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.754528. PMID: 23301918Free PMC Article
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.
Pyott SM, Pepin MG, Schwarze U, Yang K, Smith G, Byers PH
Genet Med 2011 Feb;13(2):125-30. doi: 10.1097/GIM.0b013e318202e0f6. PMID: 21239989
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).
de Jong G, Muller LM
Am J Med Genet 1995 Nov 6;59(2):134-8. doi: 10.1002/ajmg.1320590203. PMID: 8588573
Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.
Beighton P, Spranger J, Versveld G
S Afr Med J 1983 Oct 1;64(15):565-8. PMID: 6623243

Prognosis

Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM
Fetal Pediatr Pathol 2013 Oct;32(5):319-25. Epub 2013 Jan 10 doi: 10.3109/15513815.2012.754528. PMID: 23301918Free PMC Article
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE
Hum Mol Genet 2009 Feb 1;18(3):463-71. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn374. PMID: 18996919Free PMC Article
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).
de Jong G, Muller LM
Am J Med Genet 1995 Nov 6;59(2):134-8. doi: 10.1002/ajmg.1320590203. PMID: 8588573
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article
Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.
Beighton P, Spranger J, Versveld G
S Afr Med J 1983 Oct 1;64(15):565-8. PMID: 6623243

Clinical prediction guides

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE
Hum Mol Genet 2009 Feb 1;18(3):463-71. Epub 2008 Nov 7 doi: 10.1093/hmg/ddn374. PMID: 18996919Free PMC Article
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article
Lethal perinatal type II osteogenesis imperfecta in a family with a dominantly inherited type I.
Gillerot Y, Druart JM, Koulischer L
Eur J Pediatr 1983 Dec;141(2):119-22. doi: 10.1007/BF00496804. PMID: 6662142

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