Lethal prenatal onset infantile cortical hyperostosis (Caffey disease)
- PMID: 11827425
- DOI: 10.1080/00313020120083304
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease)
Abstract
We describe a sporadic case of lethal prenatal onset infantile cortical hyperostosis (Caffey disease), which resulted in early postnatal death at 30 weeks gestation. The mother presented with antepartum haemorrhage and preterm labour. She was found to have polyhydramnios. The infant showed extensive symmetrical diaphyseal subperiosteal cortical thickening throughout the skeleton with short extremities. Hepatomegaly and lung hypoplasia were present. Currently, in the absence of a specific marker, diagnostic ultrasound offers the only prospect of prenatal diagnosis. This diagnosis should be considered in infants with short angulated long bones, where the diaphyses are irregular and echodense, and where there is no sign of fractures.
Similar articles
-
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).Am J Med Genet. 1995 Nov 6;59(2):134-8. doi: 10.1002/ajmg.1320590203. Am J Med Genet. 1995. PMID: 8588573
-
Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.Am J Med Genet A. 2003 Aug 1;120A(4):547-52. doi: 10.1002/ajmg.a.20062. Am J Med Genet A. 2003. PMID: 12884437 Review.
-
Severe prenatal infantile cortical hyperostosis (Caffey's disease).Clin Dysmorphol. 1993 Jan;2(1):81-6. Clin Dysmorphol. 1993. PMID: 8298744 Review.
-
Prenatal infantile cortical hyperostosis (Caffey's disease): a 'hepatic myeloid hyperplasia-pulmonary hypoplasia sequence' can explain the lethality of early onset cases.Prenat Diagn. 2005 Oct;25(10):939-44. doi: 10.1002/pd.1235. Prenat Diagn. 2005. PMID: 16193456
-
A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis.Yonsei Med J. 2019 May;60(5):484-486. doi: 10.3349/ymj.2019.60.5.484. Yonsei Med J. 2019. PMID: 31016912 Free PMC article.
Cited by
-
Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey–Silverman Disease).AJP Rep. 2017 Jul;7(3):e174-e180. doi: 10.1055/s-0037-1606364. Epub 2017 Sep 11. AJP Rep. 2017. PMID: 29142783 Free PMC article.
-
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.J Clin Invest. 2005 May;115(5):1250-7. doi: 10.1172/JCI22760. J Clin Invest. 2005. PMID: 15864348 Free PMC article.
-
Caffey's disease: an unusual cause for concern.Ir J Med Sci. 2007 Jul-Sep;176(2):133-6. doi: 10.1007/s11845-007-0038-6. Epub 2007 May 3. Ir J Med Sci. 2007. PMID: 17476565
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical