Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/9148
Title: Familial mutation in caffey disease with reduced penetrance: A case report
Authors: Özdemir, Özmert Muhammet Ali
Tancer-Elçi, Hazal
Polat, Aziz
Güçtürk, İinci
Tepeli, Emre
Zeybek, Selcan
Ayaz, Akif
Keywords: Caffey disease
COL1A1
Infant
Mutation
alkaline phosphatase
collagen type 1
ibuprofen
indometacin
vitamin D
Article
blood smear
bone lesion
bone radiography
case report
clavicle
clinical article
cortical thickness (bone)
crying
erythrocyte sedimentation rate
familial disease
follow up
gene
genetic analysis
head circumference
human
infant
irritability
long bone
lower limb
male
mandible
missense mutation
ossification
penetrance
restlessness
sequence analysis
swelling
thrombocytosis
tibia
type I collagen alpha 1 chain gene
upper limb
Publisher: Turkish Journal of Pediatrics
Abstract: Caffey disease is a rare condition of early infancy, characterized by soft tissue swelling, bone lesions, and hyperirritability. Its typical radiological finding is periosteal new bone formation. It can be sporadic or inherited in an autosomal dominant manner. There is no specific treatment. In symptomatic cases, non-steroidal anti-inflammatory drugs such as ibuprofen, indomethacin, or naproxen can be used. This is a report of an infant who presented with restlessness, irritability, and swelling over his shins, diagnosed as Caffey disease. Although there was no family history, the genetic analysis revealed heterozygous missense mutation (c.3040C>T) in type-I-collagen-alpha-1-chain gene in the patient in addition to his mother, grandmother, aunt, and cousin. After indomethacin therapy, the complaints of the patient were completely resolved and his bone lesions were significantly improved. This case report is a familial form of Caffey disease from Turkey, with proven heterozygous mutation in the patient and the family members. © 2016, Turkish Journal of Pediatrics. All rights reserved.
URI: https://hdl.handle.net/11499/9148
https://doi.org/10.24953/turkjped.2016.06.011
ISSN: 0041-4301
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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