Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease)

American Journal of Medical Genetics
G de Jong, L M Muller

Abstract

We describe 2 sibs with lethal, prenatal-onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of short limb dwarfism and thoracic dysplasia (nonspecific), possibly osteogenesis imperfecta. The second sib had a similar appearance on ultrasonography. The thickened, irregularly echodense diaphyses were an aid to diagnosis. Although sporadic cases and autosomal dominant inheritance have been described, an autosomal recessive cause for the lethal prenatal onset cases cannot be excluded.

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Citations

Oct 29, 2002·Clinical Dysmorphology·Mohnish SuriM Griffiths
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Jun 21, 2019·Intractable & Rare Diseases Research·Yanqin LuJinxiang Han

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