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

Lécolier, B; Bercau, G; Gonzalès, Marie; Afriat, R; Rambaud, D.; Mulliez, N; Kermadec, S. De

doi:10.1002/pd.1970120803

Cited by 31 publications

(32 citation statements)

References 9 publications

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“…The condition usually occurs in young infants (i.e., before 5 months of age) and is occasionally seen in neonates. Another form of infantile cortical hyperostosis, a lethal prenatal form, has been proposed [Lecolier et al, 1992]. The authors found angulations of long bones, an apparent rib fracture and polyhydramnios at 20 weeks of gestation in a pregnancy aborted at 23 weeks due to fetal-placental anasarca.…”

Section: Introductionmentioning

confidence: 98%

Prenatal cortical hyperostosis with COL1A1 gene mutation

Kamoun-Goldrat

Martinovic

Saada

et al. 2008

American J of Med Genetics Pt A

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Infantile cortical hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C --> T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical hyperostosis.

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Section: Introductionmentioning

confidence: 98%

Prenatal cortical hyperostosis with COL1A1 gene mutation

Kamoun-Goldrat

Martinovic

Saada

et al. 2008

American J of Med Genetics Pt A

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“…Spontaneous remission is the usual outcome but relapses and long-term complications while uncommon can occur [2]. Diagnosis is confirmed with elevated alkaline phosphatase levels and plain radiographs [8]. Subperiosteal new bone formation with progressive cortical thickening can be seen in any bone except the vertebrae and phalanges.…”

Section: Discussionmentioning

confidence: 98%

“…Tenderness is deep and firm but skin changes (erythema, discolouration) are not seen. The mandible is most frequently involved followed by the clavicle and ulna, and involvement is usually asymmetrical [8]. Histologically, the periosteum is thickened, there is subperiosteal immature lamellar bone and a vascular fibrous infiltrate in the medulla at the affected site [9].…”

Section: Discussionmentioning

confidence: 99%

Caffey’s disease: an unusual cause for concern

et al. 2007

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“…Postnatal examination confirmed Caffey disease with osteosclerosis that led to thickened clavicles and ribs. 11 Severe expansion of the bowed long bones showed a cortical new bone formation. B, Despite the initial false impression of a small chin on surface rendering, a midline sagittal view (top right) provides evidence that the chin is actually well developed.…”

Section: Discussionmentioning

confidence: 99%

Three-dimensional Ultrasonographic Presentation of Micrognathia

Lee

McNie

Chaiworapongsa

et al. 2002

Journal of Ultrasound in Medicine

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Objective. To present the variable appearance of micrognathia in fetuses by three-dimensional ultrasonography and to describe practical methods for analysis of these volume data. Methods. Threedimensional multiplanar imaging and surface-rendering techniques were used to show various syndromes and diagnostic approaches for the evaluation of fetal micrognathia. Results. Nine cases of fetal micrognathia are presented. Orthogonal multiplanar views were used to obtain a midsagittal facial profile. Examples of micrognathia include 3 cases of Pierre Robin sequence, cerebrocostomandibular syndrome, Cornelia de Lange syndrome, and hypochondrogenesis. Diagnostic pitfalls for micrognathia are also shown. Conclusions. Three-dimensional multiplanar imaging increases the likelihood that a true midline sagittal view of the facial profile is being analyzed. Surface rendering provides another way to qualitatively evaluate the fetal chin from different viewing perspectives. Three-dimensional ultrasonographic methods are useful adjuncts to the preliminary diagnostic impression from two-dimensional ultrasonography.

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

Cited by 31 publications

References 9 publications

Prenatal cortical hyperostosis with COL1A1 gene mutation

Prenatal cortical hyperostosis with COL1A1 gene mutation

Caffey’s disease: an unusual cause for concern

Three-dimensional Ultrasonographic Presentation of Micrognathia

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