Literature DB >> 1359527

Radiographic, haematological, and biochemical findings in a fetus with Caffey disease.

B Lécolier1, G Bercau, M Gonzalès, R Afriat, D Rambaud, N Mulliez, S de Kermadec.   

Abstract

An early case of prenatal Caffey disease is reported. Ultrasound examination performed at 20 weeks showed major angulations of long bones, but both ultrasound scan and X-rays failed to make the differential diagnosis between Caffey disease and lethal osteogenesis imperfecta. A cordocentesis allowed us to find important biological abnormalities. The pregnancy was terminated after the rapid development of hydrops fetalis. The definitive diagnosis of Caffey disease was obtained by special X-ray and pathological study.

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Year:  1992        PMID: 1359527     DOI: 10.1002/pd.1970120803

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  4 in total

Review 1.  Caffey disease: new perspectives on old questions.

Authors:  Harikiran Nistala; Outi Mäkitie; Harald Jüppner
Journal:  Bone       Date:  2013-12-31       Impact factor: 4.398

2.  Caffey's disease: an unusual cause for concern.

Authors:  F J Shannon; M Murphy; I Atchia; E Phelan; E E Fogarty
Journal:  Ir J Med Sci       Date:  2007-05-03       Impact factor: 1.568

3.  The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease).

Authors:  Tae-Joon Cho; Hyuk Ju Moon; Dae-Yeon Cho; Moon Seok Park; Dong Yeon Lee; Won Joon Yoo; Chin Youb Chung; In Ho Choi
Journal:  J Hum Genet       Date:  2008-08-13       Impact factor: 3.172

4.  Birth Order and Maternal Age for Reported Cases of Severe Prenatal Cortical Hyperostosis (Caffey–Silverman Disease)

Authors:  Rolf R Engel; Raul F Cifuentes
Journal:  AJP Rep       Date:  2017-09-11
  4 in total

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