Hajdu Cheney Syndrome
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 diagno...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
JCDR Research and Publications Private Limited
2016-02-01
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| Series: | Journal of Clinical and Diagnostic Research |
| Subjects: | |
| Online Access: | https://jcdr.net/articles/PDF/7203/15782_CE(RA1)_F(T)_PF1(EKAK)_PFA(AK)_PF2(PAG).pdf |
| Summary: | 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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| ISSN: | 2249-782X 0973-709X |