276 results match your criteria Caffey Disease Imaging


Radiographic overlap of recurrent Caffey disease and chronic recurrent multifocal osteomyelitis (CRMO) with considerations of molecular origins.

Pediatr Radiol 2020 May 23;50(5):618-627. Epub 2019 Dec 23.

Department of Pediatric Radiology, Soroka University Medical Center, Ben-Gurion University, Beer Sheva, Israel.

Caffey disease, or infantile cortical hyperostosis, classically describes a self-limited inflammatory disorder that presents in the infant with fussiness, focal swelling and sometimes fever. Imaging is conventionally limited to radiography, which shows mild to profound subperiosteal bone formation and sometimes deformity. This disease was not uncommonly diagnosed in the late 20 century. Read More

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http://dx.doi.org/10.1007/s00247-019-04590-3DOI Listing

Hypertrophic osteopathy in a cat with cardiac interventricular septal defect.

J Vet Sci 2019 Sep;20(5):e52

Setor de Patologia Veterinária, Departamento de Patologia Clínica Veterinária, Faculdade de Veterinária (FAVET), Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS 91540-000, Brazil.

A 3-year-old mixed-breed female cat was diagnosed with a ventricular septal defect of the heart through an echocardiogram. After a 9-month treatment, progressive and diffuse hard thickening of all limbs was observed, which on radiographic examinations, revealed a marked thickening of the long bones. The necropsy findings were limited to the appendicular skeleton and thoracic vertebrae, in addition to a severe cardiac interventricular septal defect and lung edema. Read More

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http://dx.doi.org/10.4142/jvs.2019.20.e52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6769326PMC
September 2019
4 Reads

Hyperphosphataemic familial tumoral calcinosis: case report of a rare and challenging disease.

Scand J Rheumatol 2020 Jan 19;49(1):80-81. Epub 2019 Jun 19.

Rheumatology Department, Vila Nova de Gaia/Espinho Hospital, Unit I, Vila Nova de Gaia, Portugal.

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http://dx.doi.org/10.1080/03009742.2019.1602883DOI Listing
January 2020
1 Read

A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis.

Yonsei Med J 2019 May;60(5):484-486

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it presents antenatally, especially before a gestational age of 35 weeks. This fatal, premature form of the disease is known to occur in various ethnic groups around the globe, and approximately 30 cases have been reported in English literature. Read More

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http://dx.doi.org/10.3349/ymj.2019.60.5.484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6479132PMC
May 2019
10 Reads

Hyperphosphataemic tumoral calcinosis.

Lancet 2019 01;393(10167):168

Department of Orthopaedics, All India Institute of Medical Sciences, Bhopal, India.

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http://dx.doi.org/10.1016/S0140-6736(18)33045-9DOI Listing
January 2019
31 Reads
45.217 Impact Factor

Infantile cortical hyperostosis manifesting as congenital unilateral proptosis.

Can J Ophthalmol 2018 12 7;53(6):e249-e252. Epub 2018 Mar 7.

Bristol Eye Hospital, Bristol, United Kingdom.

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http://dx.doi.org/10.1016/j.jcjo.2018.01.002DOI Listing
December 2018
31 Reads

Worth syndrome "mandibular osteosclerosis" as an incidental finding: a report of 2 cases.

Dentomaxillofac Radiol 2018 12 20;47(8):20180171. Epub 2018 Jul 20.

1 College of Dental Medicine, University of New England , Portland, ME  , USA.

This report presents two cases of Worth syndrome involving the mandible which were identified as an incidental finding on radiologic evaluation. Both patients were females who presented with enlarged mandibles. Radiologic evaluation revealed multiple bilateral mandibular enostoses, widened and thickened inferior cortical border of the mandible, with no other major clinical finding on examination. Read More

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https://www.birpublications.org/doi/10.1259/dmfr.20180171
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http://dx.doi.org/10.1259/dmfr.20180171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326389PMC
December 2018
8 Reads

Unusual findings on infantile cortical hyperostosis: A case report.

Spec Care Dentist 2018 Sep 29;38(5):324-327. Epub 2018 Jun 29.

Department of Stomatology, School of Dentistry at Bauru, University of São Paulo, Bauru, São Paulo, Brazil.

Background: Caffey's disease is a rare syndrome, usually self-limiting, affecting newborn and young infants. On radiological exams, the cortical hyperostosis is always present, associated or not to soft tissue swelling. Other radiographic presentations are described as lytic areas. Read More

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http://dx.doi.org/10.1111/scd.12305DOI Listing
September 2018
50 Reads

Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature.

Osteoporos Int 2018 Sep 20;29(9):1987-2009. Epub 2018 Jun 20.

Calcium Metabolism and Osteoporosis Program, WHO Collaborating Center for Metabolic Bone Disorders, American University of Beirut Medical Center, Beirut, Lebanon.

Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. Read More

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http://dx.doi.org/10.1007/s00198-018-4574-xDOI Listing
September 2018
12 Reads

Case Report of Worth Syndrome and Chiari I Malformation: Unusual Association and Surgical Treatment.

World Neurosurg 2018 Jul 27;115:225-228. Epub 2018 Apr 27.

Department of Neurosurgery, José María Ramos Mejía General Hospital, Buenos Aires, Argentina.

Background: Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. To the author's knowledge, this is the second case report of a family with neurologic involvement associated with this condition along with its surgical treatment. The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical treatment for this condition reported in the literature. Read More

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http://dx.doi.org/10.1016/j.wneu.2018.04.144DOI Listing
July 2018
14 Reads

Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?

Pediatr Nephrol 2018 07 28;33(7):1263-1267. Epub 2018 Mar 28.

Centre de Référence des Maladies Rénales Rares, Centre de Référence des Maladies Rares du Calcium et du Phosphate, Hospices Civils de Lyon, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69677, Bron cedex, France.

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disease caused by mutations in genes encoding FGF23 or its regulators, and leading to functional deficiency or resistance to fibroblast growth factor 23 (FGF23). Subsequent biochemical features include hyperphosphatemia due to increased renal phosphate reabsorption, and increased or inappropriately normal 1,25-dihydroxyvitamin D (1,25-D) levels.

Case-diagnosis/treatment: A 15-year-old girl was referred for a 1. Read More

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http://dx.doi.org/10.1007/s00467-018-3945-zDOI Listing
July 2018
19 Reads

Dialysis as a Treatment Option for a Patient With Normal Kidney Function and Familial Tumoral Calcinosis Due to a Compound Heterozygous FGF23 Mutation.

Am J Kidney Dis 2018 09 14;72(3):457-461. Epub 2018 Mar 14.

Nephrology Division, University of São Paulo School of Medicine, Sao Paulo-SP, Brazil; Universidade Nove de Julho, São Paulo-SP, Brazil. Electronic address:

Primary tumoral calcinosis is a rare autosomal recessive disorder characterized by ectopic calcified tumoral masses. Mutations in 3 genes (GALNT3, FGF23, and KL) have been linked to this human disorder. We describe a case of a 28-year-old man with a history of painful firm masses over his right and left gluteal region, right clavicle region, knees, and left elbow. Read More

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http://dx.doi.org/10.1053/j.ajkd.2017.12.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109594PMC
September 2018
29 Reads

Infantile Cortical Hyperostosis of Scapula Presenting as Pseudoparalysis in an Infant.

Indian Pediatr 2017 02;54(2):157-158

Department of Pediatrics, CHILDS Trust Medical Research Foundation, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India

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http://dx.doi.org/10.1007/s13312-017-1023-4DOI Listing
February 2017
17 Reads

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Bone 2016 12 24;93:187-195. Epub 2015 Nov 24.

Life Sciences Department, Medical Biotechnology, Arabian Gulf University, Manama, Bahrain.

FGF23 is essential for the homeostasis of phosphate, and vitamin D. Loss-of-function mutations in this hormone cause hyperphosphatemic familial tumoral calcinosis (HFTC). Earlier reports suggested that intact FGF23 from loss of function mutants such as FGF23/S129F (iFGF23/S129F) is retained intracellularly while the carboxy-terminal fragment is secreted. Read More

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http://dx.doi.org/10.1016/j.bone.2015.11.015DOI Listing
December 2016
103 Reads

Hyperostosis in siblings.

S Afr Med J 2016 May 25;106(6 Suppl 1):S98-9. Epub 2016 May 25.

Department of Endocrinology and Metabolic Diseases, Charité-Universitätsmedizin, Berlin; and Division of Medical Genetics, Children's Hospital, University of Freiburg, Germany.

Infantile cortical hyperostosis - Caffey-Silverman disease - is a familial disorder manifesting in the late fetal period or infancy with excessive periosteal bone formation. Signs and symptoms regress spontaneously within months and result in expanded, deformed bones. The paucity of clinical symptoms may lead to delayed investigation and confusion of the remaining bone changes with those in other conditions. Read More

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http://dx.doi.org/10.7196/SAMJ.2016.v106i6.11007DOI Listing
May 2016
9 Reads

Prenatal Presentation of Lethal Variant Infantile Cortical Hyperostosis (Caffey Disease).

Ultrasound Q 2016 Dec;32(4):338-341

*Department of Medical Imaging, University of Toronto; and †Abdominal Imaging Division, Obstetrical Ultrasound Centre, Sunnybrook Health Science Centre, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/RUQ.0000000000000234DOI Listing
December 2016
5 Reads

Facial Swelling in an Infant.

JAMA Otolaryngol Head Neck Surg 2016 Mar;142(3):293-4

University of Texas Medical School at Houston, Department of Pediatrics, Houston.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoto.2015.3197DOI Listing
March 2016
7 Reads

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Clin Endocrinol (Oxf) 2015 Dec 19;83(6):790-6. Epub 2015 Oct 19.

Department of Paediatrics, Asan Medical Centre Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Context: Hypoparathyroidism is characterized by hypocalcaemia, hyperphosphataemia, and low or inappropriately normal parathyroid hormone (PTH) levels. Idiopathic or genetic drivers are the predominant causes of hypoparathyroidism in paediatric-age patients.

Objective: This study investigated the aetiology and clinical course of primary hypoparathyroidism in infancy and childhood. Read More

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http://dx.doi.org/10.1111/cen.12944DOI Listing
December 2015
46 Reads

Prenatal Caffey disease (prenatal cortical hyperostosis): severe forms with favorable outcome.

Prenat Diagn 2015 Apr 3;35(4):409-11. Epub 2015 Mar 3.

Service obstétrique, Hôpital Femme Mère Enfants, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1002/pd.4567DOI Listing
April 2015
32 Reads

Hyperostotic bone disease in a wombat (Vombatus ursinus).

Res Vet Sci 2014 Aug 9;97(1):88-95. Epub 2014 May 9.

Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv 69978, Israel. Electronic address:

Little is known about wombat diseases in general, and about their congenital diseases in particular. In the current study, the skeleton of a common wombat (Vombatus ursinus) that exhibited generalized hyperostosis is analyzed, and possible diagnoses are reviewed. Macromorphological analyses revealed that the diaphyses of the long bones manifested an increased diameter with extensive diaphyseal new-bone formation (periosteal and endosteal). Read More

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http://dx.doi.org/10.1016/j.rvsc.2014.05.004DOI Listing
August 2014
14 Reads

[Caffey disease. A case report].

Acta Ortop Mex 2013 Mar-Apr;27(2):114-8

Infantile cortical hyperostosis or Caffey-Silverman syndrome is a disorder of unknown cause that affects the skeleton and some of the contiguous fascias and muscles. It occurs under all circumstances, in cities, rural communities, in all types of climates, seasons, races, social strata, and its incidence is the same among males and females. We report herein a very rare disease, little known in world literature, in order to disseminate within the orthopedic setting the musculoskeletal alterations we found in Caffey-Silverman disease. Read More

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May 2014
6 Reads

[Child with crooked legs].

Tidsskr Nor Laegeforen 2014 Feb;134(4):422

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http://dx.doi.org/10.4045/tidsskr.13.1183DOI Listing
February 2014
6 Reads

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

Eur J Pediatr 2014 Jun 4;173(6):799-804. Epub 2014 Jan 4.

Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamada-oka, Suita, Osaka, 565-0871, Japan.

Unlabelled: Caffey disease, also known as infantile cortical hyperostosis, is a rare bone disease characterized by acute inflammation with swelling of soft tissues and hyperostosis of the outer cortical surface in early infancy. The common heterozygous mutation of the COL1A1 gene, p.Arg1014Cys, has been reported in patients with Caffey disease. Read More

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http://dx.doi.org/10.1007/s00431-013-2252-8DOI Listing
June 2014
24 Reads

Caffey disease: new perspectives on old questions.

Bone 2014 Mar 31;60:246-51. Epub 2013 Dec 31.

Pediatric Nephrology Unit and Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. Electronic address:

The autosomal dominant form of Caffey disease is a largely self-limiting infantile bone disorder characterized by acute inflammation of soft tissues and localized thickening of the underlying bone cortex. It is caused by a recurrent arginine-to-cysteine substitution (R836C) in the α1(I) chain of type I collagen. However, the functional link between this mutation and the underlying pathogenetic mechanisms still remains elusive. Read More

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http://dx.doi.org/10.1016/j.bone.2013.12.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987944PMC
March 2014
29 Reads

Mass lesions in right fifth toe in a dialysis patient: which surgery?

ANZ J Surg 2013 Dec;83(12):991

Division of Nephrology, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

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http://dx.doi.org/10.1111/ans.12230DOI Listing
December 2013
9 Reads

A mildly painful wrist mass.

Skeletal Radiol 2014 Mar;43(3):413-5; 371-2

Department of Radiology & Nuclear Medicine, Tuen Mun Hospital, Tuen Mun, New Territories, Hong Kong,

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http://dx.doi.org/10.1007/s00256-013-1711-7DOI Listing
March 2014
28 Reads

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Am J Hum Genet 2013 Jun 16;92(6):990-5. Epub 2013 May 16.

Department of Pediatrics, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland; Medical Genetics Service, Lausanne University Hospital, University of Lausanne, 1011 Lausanne, Switzerland.

Kenny-Caffey syndrome (KCS) and the similar but more severe osteocraniostenosis (OCS) are genetic conditions characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. We studied five individuals with KCS and five with OCS and found that all of them had heterozygous mutations in FAM111A. One mutation was identified in four unrelated individuals with KCS, and another one was identified in two unrelated individuals with OCS; all occurred de novo. Read More

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http://dx.doi.org/10.1016/j.ajhg.2013.04.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675238PMC
June 2013
45 Reads

[Neonatal cortical hyperostosis (Caffey disease)].

An Pediatr (Barc) 2013 Sep 22;79(3):189-90. Epub 2012 Oct 22.

Servicio de Pediatría, Hospital Universitario Ramón y Cajal, Universidad de Alcalá de Henares, Madrid, España.

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https://linkinghub.elsevier.com/retrieve/pii/S16954033120037
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http://dx.doi.org/10.1016/j.anpedi.2012.08.007DOI Listing
September 2013
4 Reads

Dramatic diminution of a large calcification treated with topical sodium thiosulfate.

Arthritis Rheum 2012 Nov;64(11):3826

INSERM UMR, Limoges, France.

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http://dx.doi.org/10.1002/art.34628DOI Listing
November 2012
29 Reads

Oral manifestations of patients with Kenny-Caffey Syndrome.

Eur J Med Genet 2012 Aug-Sep;55(8-9):441-5. Epub 2012 Mar 30.

Paediatric Dentistry, Garancière Paris Diderot University, France.

Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. Read More

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http://dx.doi.org/10.1016/j.ejmg.2012.03.005DOI Listing
November 2012
18 Reads

Familial occurrence of Caffey-Silverman syndrome.

Ortop Traumatol Rehabil 2012 Jan-Feb;14(1):75-83

Department of Paediatric Orthopedics and Traumatology, Pomeranian Medical University, Szczecin, Poland.

Caffey-Silverman syndrome, or infantile hyperostosis, is a rare condition of unclear etiology and pathogenesis affecting the skeletal system and the surrounding soft tissues. It is characterized by indurated swelling of soft tissues and cortical bone hyperostosis. The changes are usually multiple and affect such parts as the mandible, scapulae, ribs, clavicles, and forearm and shank bones. Read More

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http://dx.doi.org/10.5604/15093492.976906DOI Listing
July 2012
6 Reads

A rare variant of Caffey's disease - X-rays, bone scan and FDG PET findings.

Indian J Nucl Med 2011 Apr;26(2):112-4

Bio-imaging Unit, Tata Memorial Hospital, E. Borges Road, Parel, Mumbai, India.

An 18-month-old boy with history of fever of 4 months duration and with swelling of the limbs was referred for a bone scan. There were multiple swellings over his upper and lower limbs, with bowing of the lower limbs. His radiological skeletal survey revealed marked periosteal new bone formation surrounding the diaphysis of long bones. Read More

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http://dx.doi.org/10.4103/0972-3919.90267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3237214PMC
April 2011
5 Reads

Worth syndrome as a diagnosis for mandibular osteosclerosis.

Authors:
K Payne A Dickenson

Dentomaxillofac Radiol 2011 Dec;40(8):531-3

Royal Derby Hospital, Derby, UK.

This case report presents an unusual incidental radiographic finding on a dental panoramic radiograph that caused diagnostic confusion. A 46-year-old female presented with symmetrical sclerotic cortical thickening of the anterior mandible visible on radiograph, with no other major clinical examination findings. The patient subsequently showed no change in radiographic appearance over a 6 year period. Read More

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http://dx.doi.org/10.1259/dmfr/71865631DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528158PMC
December 2011
4 Reads

Caffey's disease in an infant.

J Coll Physicians Surg Pak 2011 Oct;21(10):634-6

Department of Paediatric Medicine, The Children's Hospital and The Institute of Child Health, 13 Danepur Road, Lahore.

Caffey's disease is a self limited disorder of infantile age group. It is synonymous with 'infantile cortical hyperostosis' and 'Caffey's-Silver syndrome'.It is characterized by fever, irritability, bone pain and characteristic bony changes. Read More

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http://dx.doi.org/10.2011/JCPSP.634636DOI Listing
October 2011
8 Reads
0.320 Impact Factor

Radiological aspects of prenatal-onset cortical hyperostosis [Caffey Dysplasia].

Eur J Radiol 2012 Apr 2;81(4):e565-72. Epub 2011 Jul 2.

International Skeletal Dysplasia Registry, Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Boulevard, PACT Suite 400, Los Angeles, CA 90048, USA.

Objective: Cortical hyperostosis is a bone disease that may, at times, occur with a prenatal onset. This study seeks to present the characteristic patterns of prenatal-onset cortical hyperostosis (PCH) with regard to the radiographic features, and tries to ascertain whether PCH is a separate entity from infantile cortical hyperostosis (ICH), known as classic Caffey Disease.

Materials And Methods: This retrospective study identified cases with PCH based upon abnormal radiographic and chondro-osseous morphological and clinical findings, as available, from the International Skeletal Dysplasia Registry between 1987 and 2009. Read More

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http://dx.doi.org/10.1016/j.ejrad.2011.06.049DOI Listing
April 2012
4 Reads

Cerebral vasospasm after auditory brainstem implantation in a patient with hyperostosis cranialis interna.

Clin Neurol Neurosurg 2011 Dec 12;113(10):904-8. Epub 2011 Jun 12.

Department of Otorhinolaryngology and Head & Neck Surgery, Maastricht University Medical Center, P.O. 5800, 6202AZ Maastricht, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S03038467110013
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http://dx.doi.org/10.1016/j.clineuro.2011.05.005DOI Listing
December 2011
4 Reads

Prenatal Caffey disease.

Isr Med Assoc J 2011 Feb;13(2):113-4

Division of Neonatology, Department of Pediatrics, Children's & Women's Health Centre of British Columbia, University of British Columbia, Vancouver, BC, Canada.

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February 2011
9 Reads

Caffey disease.

Pediatr Radiol 2010 Dec 22;40 Suppl 1:S39. Epub 2010 Oct 22.

Department of Radiology, Seattle Children's Hospital, 4800 Sand Point Way NE, R-5417, Seattle, WA 98105, USA.

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http://dx.doi.org/10.1007/s00247-010-1869-2DOI Listing
December 2010
6 Reads

Infantile cortical hyperostosis (Caffey disease): a possible misdiagnosis as physical abuse.

Hong Kong Med J 2010 Oct;16(5):397-9

Department of Paediatrics and Adolescent Medicine, Tuen Mun Hospital, Tuen Mun, Hong Kong.

Infantile cortical hyperostosis (Caffey disease) is a rare self-limiting inflammatory bony disease of early infancy. We report a 1-month-old Chinese boy with Caffey disease who presented with painful swelling over his shins bilaterally. Physical abuse was initially suspected, but the radiological findings of periosteal thickening over multiple bones (particularly the mandible), symmetrical involvement, diaphyseal involvement with sparing of the epiphysis, made Caffey disease a likely diagnosis. Read More

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October 2010
7 Reads

Prenatal cortical hyperostosis (Caffey disease) with Down syndrome.

J Obstet Gynaecol 2009 Jan;29(1):57-8

Department of Obstetrics and Gynaecology, Wexham Park Hospital, Slough, Berkshire, UK.

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http://www.tandfonline.com/doi/full/10.1080/0928658080248420
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http://dx.doi.org/10.1080/09286580802484201DOI Listing
January 2009
6 Reads

Infantile cortical hyperostosis (Caffey disease): a review.

J Oral Maxillofac Surg 2008 Oct;66(10):2145-50

Hôpital Necker, Paris, France.

Purpose: Face swelling in infants may have several causes including infantile cortical hyperostosis (Caffey disease), an inflammatory process with swelling of soft tissues and periosteal hyperostosis of some bones. New insights show that this self-limited condition is collagen I-related.

Patients And Methods: Collagen I is the most important component of bone and dentine. Read More

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http://dx.doi.org/10.1016/j.joms.2007.09.007DOI Listing
October 2008
3 Reads

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

J Hum Genet 2008 13;53(10):947. Epub 2008 Aug 13.

Department of Orthopaedic Surgery, Seoul National University Children's Hospital, 28, Yeongeon-dong, Jongno-gu, Seoul, 110-744, South Korea.

Infantile cortical hyperostosis (ICH) is characterized by spontaneous episodes of subperiosteal new bone formation in the long bones, mandible, and clavicle during infancy. A heterozygous missense mutation, c.3040C > T (p. Read More

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http://dx.doi.org/10.1007/s10038-008-0328-5DOI Listing
November 2008
23 Reads

Prenatal cortical hyperostosis with COL1A1 gene mutation.

Am J Med Genet A 2008 Jul;146A(14):1820-4

Paris Descartes University, INSERM U781, Hôpital Necker, Paris, France.

Infantile cortical hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Read More

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http://dx.doi.org/10.1002/ajmg.a.32351DOI Listing
July 2008
27 Reads

Caffey disease with raised immunoglobulin levels and thrombocytosis.

Indian J Pediatr 2008 Feb;75(2):181-2

Child Health Unit 1, Christian Medical College, Vellore, India.

Infantile cortical hyperostosis (Caffey disease) is characterized by radiological evidence of cortical hyperostosis, soft tissue swellings, fever and irritability. We report a case of Caffey disease highlighting its presentation with thrombocytosis and high serum immunoglobulin level to alert physicians to use steroids cautiously in view of the known thrombocythemic effect of the drug. Raised Immunoglobulin also suggests that this syndrome could be infectious in origin. Read More

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http://dx.doi.org/10.1007/s12098-008-0027-4DOI Listing
February 2008
8 Reads

Cortical hyperostosis secondary to prostaglandin E1 therapy.

J Pediatr 2007 Oct;151(4):441, 441.e1

Division of Pediatric Gastroenterology, University of Mississippi Medical Center, Jackson, Mississippi 39216, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476070023
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http://dx.doi.org/10.1016/j.jpeds.2007.02.066DOI Listing
October 2007
7 Reads

Mandibular Caffey's disease--case report.

Coll Antropol 2007 Mar;31(1):359-61

Department of Oncology and Nuclear Medicine, University Hospital Sestre Milosrdnice Zagreb, Croatia.

The case of a six-month-old boy with mandibular Caffey's disease is described. Emphasis is placed on the role of bone scintigraphy, as a diagnostic method which would be, because of the clinical picture and the beginning of the disease (suspected osteomyelitis), one of the first methods performed. Highly characteristic scintigraphic image, when the mandible is involved, can play the most important role in further treatment, and its recognition can also spare many unnecessary procedures. Read More

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March 2007
37 Reads

Caffey's disease: an unusual cause for concern.

Ir J Med Sci 2007 Jul-Sep;176(2):133-6. Epub 2007 May 3.

Department of Orthopaedic Surgery, Our Ladys' Hospital for Sick Children, Crumlin, Dublin 12, Ireland.

Background: Caffey's disease or infantile cortical hyperostosis is a rare cause of irritability, bone pain, soft tissue swelling and fever in the infant.

Aims: To review the presentation and diagnosis of an 8-week old infant with focal tenderness of the tibia.

Methods: The symptoms, signs, laboratory work-up and radiology are reviewed. Read More

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http://dx.doi.org/10.1007/s11845-007-0038-6DOI Listing
January 2008
9 Reads