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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

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
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

Diagnosis

Rare diseases: a challenge in paediatric dentistry.
Giuca MR
Eur J Paediatr Dent 2024 Sep 3;25(3):171-171. Epub 2024 Sep 1 doi: 10.23804/ejpd.2024.25.03.01. PMID: 39212455
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
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

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

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO
Fetal Diagn Ther 2024;51(3):285-299. Epub 2024 Feb 12 doi: 10.1159/000536324. PMID: 38346409
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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