Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2007 Mar;71(3):280-4.
doi: 10.1111/j.1399-0004.2007.00768.x.

Expanding the phenotypic spectrum of Caffey disease

K Suphapeetiporn  1 , S Tongkobpetch, A Mahayosnond, V Shotelersuk
Affiliations
Case Reports

Expanding the phenotypic spectrum of Caffey disease

K Suphapeetiporn et al. Clin Genet. 2007 Mar.

Abstract

Infantile cortical hyperostosis (ICH) is an inherited disorder characterized by hyperirritability, acute inflammation of soft tissues, and massive subperiosteal new bone formation. It typically appears in early infancy and is considered a benign self-limiting disease. We report a three-generation Thai family with ICH, the oldest being a 75-year-old man. A heterozygous mutation for a 3040C-->T in exon 41 of COL1A1 was found in affected individuals, further confirming the autosomal dominance of Caffey disease that is caused by this particular mutation. The novel findings in our studies include short stature and persistent bony deformities in the elderly. The height mean Z-score of the five affected individuals was -1.75, compared to 0.53 of the other seven unaffected individuals giving a p-value of 0.008. Short stature may be partly due to progressive height loss from scoliosis, compression fractures of the spine and genu varus. These features, which have not previously been described, expand the phenotypic spectrum of the Caffey disease.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

Publication types

Substances