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Recurrent Severe Infantile Cortical Hyperostosis (Caffey Disease) in Siblings
Author(s) -
Drinkwater Beth M.,
Crino Jude P.,
Garcia Jose,
Ogburn James,
Hecht Jacqueline T.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199708)17:8<773::aid-pd125>3.0.co;2-u
Subject(s) - penetrance , medicine , hyperostosis , variable expression , disease , family history , osteochondrodysplasia , pediatrics , pathology , phenotype , anatomy , genetics , biology , gene
Infantile cortical hyperostosis (ICH), Caffey disease, is a multifocal, inflammatory skeletal process with classic onset before the fifth month of life and resolution by the age of 3 years. A severe phenotype with early prenatal onset has also been described. Inheritance is generally accepted as autosomal dominant with variable expression and penetrance. However, occurrence in siblings with no family history has been reported, raising the possibility of heterogeneity and the existence of a severe autosomal recessive form. We describe a third family with prenatally diagnosed ICH in two siblings, providing further evidence for this form of inheritance. © John Wiley & Sons, Ltd.