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Hajdu-Cheney syndrome - a rare cause of micrognathia
* For correspondence: drdeepakmddm@yahoo.co.in
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This article was originally published by Medknow Publications & Media Pvt Ltd and was migrated to Scientific Scholar after the change of Publisher.
A 44 year old man presented to the Medicine department, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India, in September 2014 with slurring of speech and left hemiparesis of one day duration. Magnetic resonance imaging (MRI) of the brain showed pontine infarct (Fig. 1). He was treated with aspirin and atorvastatin and was on regular follow up.
- Magnetic resonance imaging (MRI) of the brain showing pontine infarct (circle) and severe micrognathia (arrow).
He also had micrognathia (Figs 1, 2a). The lower jaw progressively decreased in size over the last 10 years and he had premature loss of all teeth. It was also noticed that he had pseudoclubbing of the fingers (Fig. 2b) and toes. X-rays showed near total destruction of the terminal phalanges of hands and feet (acro-osteolysis) (Fig. 3). Skull X-rays showed loss of teeth and absent frontal sinuses (Fig. 4). Serum calcium and parathyroid hormone levels were normal. There was no evidence of any rheumatological diseases. His children were normal. Further genetic testing was not done.
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(a). Shows severe micrognathia. (b) Pseudoclubbing of the digits.
- X-ray show acroosteolysis of the terminal phalanges of all the fingers (circle) and toes (arrow).
- Skull X-rays showing absent teeth and absent frontal sinuses (arrow).
He was diagnosed to be a case of Hajdu-Cheney syndrome. Acroosteolysis with micrognathia is classically seen in this syndrome.
