Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Infantile cortical hyperostosis and COL1A1 mutation in four generations.

European journal of pediatrics - 1 Nov 2011

Cerruti-Mainardi Paola, Venturi Giacomo, Spunton Marianna, Favaron Elena, Zignani Michela, Provera Sandro, Dallapiccola Bruno

Abstract excerpt

Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone and Bones
Share to Collagen Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type I, alpha 1 Chain

Share to Genes, Dominant

Share to Osteitis Deformans

Share to Radiography

Share to Remission, Spontaneous

Source

Open in PubMed Open full text

Identifiers

PMID: 21567126
DOI: 10.1007/s00431-011-1463-0
PMCID: PMC3197908

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Infantile cortical hyperostosis and COL1A1 mutation in four generations.PMID 21567126Read ↗

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

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.Semantic proximity Read ↗

Prenatal cortical hyperostosis with COL1A1 gene mutation.Semantic proximity Read ↗

Expanding the phenotypic spectrum of Caffey disease.Semantic proximity Read ↗

Novel COL1A Gene Mutation Leading to Infantile Osteogenesis Imperfecta Type IV: A Case ReportSemantic proximity Read ↗

CYP24A1 and SLC34A1 mutations in five cases with idiopathic infantile hypercalcemiaSemantic proximity Read ↗

Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutationSemantic proximity Read ↗

Childhood presentation of COL4A1 mutations.Semantic proximity Read ↗

A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events.Semantic proximity Read ↗

Hyperostosis in siblings.Semantic proximity Read ↗

Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1Semantic proximity Read ↗

Recurrence of infantile cortical hyperostosis: a case report and review of the literature.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.