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Genes (Basel) 2022 01 28;13(2). Epub 2022 Jan 28.

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.

Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. Read More

Int J Environ Res Public Health 2021 11 22;18(22). Epub 2021 Nov 22.

Department of Orthopaedic Surgery, Soonchunhyang University Hospital Cheonan, 31 Suncheonhyang 6-gil, Dongnam-gu, Cheonan-si 31151, Korea.

Child abuse is a major public health problem that can lead to critical consequences for the child and family. However, early identification of abuse may be difficult. An 8-month-old boy presented with extensive periosteal reaction in both upper and lower long bones. Read More

Osteoporos Int 2022 Jan 10;33(1):309-312. Epub 2021 Jul 10.

Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.

Tumoral calcinosis (TC) is a rare disease characterized by periarticular soft tissue calcification. Some cases were reported in Africa and the Middle East. We report an 11-year-old Chinese girl presenting with recurrent multiple subcutaneous masses around the right elbow and hip regions. Read More

Am J Med Genet A 2021 06 22;185(6):1903-1907. Epub 2021 Mar 22.

Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, College of Medicine, University of South Florida, Tampa, Florida, USA.

Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. Read More

J Paediatr Child Health 2020 08;56(8):1321-1323

From Pediatric Allergy Immunology Unit, Department of Pediatrics, Advances Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

J Pediatr 2020 11 25;226:302-303. Epub 2020 Jul 25.

Radiology Department, S. Vincenzo Hospital, Taormina - ASP Messina, Italy.

J Craniofac Surg 2020 Jul-Aug;31(5):e471-e475

Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, and Division of Plastic Surgery, Texas Children's Hospital, Houston, TX.

Kenny-Caffey Syndrome Type 2 (KCS2) is a rare genetic disorder characterized by short stature, skeletal dysplasia, primary hypoparathyroidism, and delayed closure of the anterior fontanelle. Patients with KCS2 typically require multidisciplinary management due to numerous craniofacial and skeletal anomalies. Craniosynostosis, however, has not yet been identified in a patient with KCS2 to the best of our knowledge. Read More

Acta Biomed 2019 12 23;90(4):587-594. Epub 2019 Dec 23.

Radiology Department, National Cancer Institute Pascale Foundation, via M. Semmola 53, I-80131 Naples Italy.

We describe radiographic, contrast-enhanced MDCT and MRI findings with pathologic correlations of an unusual recurrence of tumoral calcinosis, also called Teutschlander disease. The disease was silent in the first decade of life, when it appeared with elbows recurring lesions, until the seventh decade of life, when a left hip active growth lesion developed. A review about tumoral calcinosis pathogenesis, clinical course and imaging differential diagnosis is reported. Read More

Pediatr Radiol 2020 05 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

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

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.

J Small Anim Pract 2021 01 2;62(1):59-64. Epub 2019 May 2.

Clinica Veterinaria Foce, Genova, 16129, Italy.

A 2 month-old female cat, mixed breed, was referred for difficulty moving and severe enlargement of the mandible and limbs. Polyostotic cortical hyperostosis was diagnosed based on diagnostic imaging and histopathological changes of the mandible and limbs. Marked cortical bone thickening was detected on radiographs and CT scan images. Read More

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

Lancet 2019 01;393(10167):168

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

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

Bristol Eye Hospital, Bristol, United Kingdom.

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

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

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

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

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

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

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

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

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

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

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.

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

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

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

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.

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

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