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Orofacial characteristics in a child with Hajdu-Cheney syndrome.

Seba SajiPavithra Devi KarthikeyanGangadharao Morankar RahulNitesh TewariVijay Prakash MathurKalpana Bansal
Published in: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry (2023)
Hajdu-Cheney syndrome (HCS) also known as Cranio-skeletal dysplasia is a rare genetic disorder of bone metabolism. It is mainly characterized by acro-osteolysis and generalized osteoporosis. The other distinctive features include a dysmorphic face, short stature, aplasia of facial sinuses, and persistent cranial sutures. Although the condition begins to manifest since birth, the characteristic features become more prominent with age. This syndrome is usually recognized by dentists due to these craniofacial abnormalities. This case report aims to highlight a case of 6-year-old girl HCS who presented with aberrant facial features, premature exfoliation of teeth, unusual mobility of teeth and atypical root resorption in primary dentition.
Keyphrases
  • case report
  • bone mineral density
  • soft tissue
  • mental health
  • gene expression
  • body composition
  • postmenopausal women
  • preterm birth
  • pregnant women
  • genome wide
  • copy number