Indian Journal of Medical Research

CLINICAL IMAGES
Year
: 2016  |  Volume : 143  |  Issue : 5  |  Page : 663--664

Hajdu-Cheney syndrome - a rare cause of micrognathia


S Deepak Amalnath, Vinod Babu 
 Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry 605 006, India

Correspondence Address:
S Deepak Amalnath
Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education & Research, Puducherry 605 006
India




How to cite this article:
Amalnath S D, Babu V. Hajdu-Cheney syndrome - a rare cause of micrognathia.Indian J Med Res 2016;143:663-664


How to cite this URL:
Amalnath S D, Babu V. Hajdu-Cheney syndrome - a rare cause of micrognathia. Indian J Med Res [serial online] 2016 [cited 2019 Nov 15 ];143:663-664
Available from: http://www.ijmr.org.in/text.asp?2016/143/5/663/187117


Full Text

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 ([Figure 1]). He was treated with aspirin and atorvastatin and was on regular follow up.{Figure 1}

He also had micrognathia ([Figure 1], [Figure 2]a). 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 ([Figure 2]b) and toes. X-rays showed near total destruction of the terminal phalanges of hands and feet (acro-osteolysis) ([Figure 3]). Skull X-rays showed loss of teeth and absent frontal sinuses ([Figure 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.{Figure 2}{Figure 3}{Figure 4}

He was diagnosed to be a case of hajdu-Cheney syndrome. Acroosteolysis with micrognathia is classically seen in this syndrome.