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Hajdu-Cheney Syndrome is a rare genetic disorder characterised by progressive focal bone destruction. It is known to be an autosomal dominant disorder but there have been reports of sporadic cases as well. Although the disease manifestation is found to begin from birth, it is most often not diagnosed until adolescence or adulthood. It could be due to the rarity of the condition and the variation of the disease manifestation at different age groups. We report a case of Hajdu-Cheney Syndrome in a 26-year-old male who presented with severe periodontitis and premature loss of teeth. The other characteristic features included craniofacial dysmorphism, abnormalities of the digits and dental anomalies. Patients with craniofacial dysmorphism along with dental abnormalities should be thoroughly examined for any underlying systemic disorder. A team of specialists may be able to diagnose this condition before the disease is advanced.
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http://dx.doi.org/10.7860/JCDR/2016/15782.7203 | DOI Listing |
Am J Med Genet A
January 2025
Department of Pediatric Genetics, University of Health Sciences, Ankara City Hospital, Ankara, Turkey.
Hajdu-Cheney syndrome (HCS), caused by a heterozygous gain of function variant of the NOTCH2 gene, is a rare skeletal dysplasia. Although the main presentation is acro-osteolysis, osteoporosis, and facial dysmorphism, having a wide range of clinical manifestations creates diagnostic difficulties. Here, a 15-year-old male patient with HCS who had no complaints until this age except for two short bone fractures and one vertebral collapse fracture due to a fall was reported.
View Article and Find Full Text PDFBone
February 2025
Department of Orthopaedic Surgery, UConn Health, Farmington, CT, USA; UConn Musculoskeletal Institute, UConn Health, Farmington, CT, USA.
Hajdu Cheney Syndrome (HCS), a monogenic disorder associated with NOTCH2 pathogenic variants, presents with neurological, craniofacial and skeletal abnormalities. Mouse models of the disease exhibit osteopenia. To determine the consequences of a HCS pathogenic variant in human cells, induced pluripotent NCRM1 and NCRM5 stem (iPS) cells harboring a NOTCH2 mutation or null for HES1 alleles were created.
View Article and Find Full Text PDFHand Surg Rehabil
December 2024
Sixth Affiliated Hospital, South China University of Technology, Foshan, Guangdong, 528200, China. Electronic address:
Indian J Anaesth
June 2024
Department of Neuroanesthesiology, Bangur Institute of Neurosciences, Kolkata, West Bengal, India.
Eur J Med Genet
June 2024
Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and Molecular Medicine, Lithuania. Electronic address:
Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities.
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