Question:

Characteristic feature of Hajdu-Cheney syndrome in radiograph of hands and feet is
1. Soft tissue calcification
2. Transverse acro-osteolysis
3. Multiple enchondromas
4. Swan neck deformity
5. Laminar periosteal reaction





Answer:

The correct answer for the question "Characteristic feature of Hajdu-Cheney syndrome in radiograph of hands and feet is" is:

2. Transverse acro-osteolysis



Explanation
1) Soft tissue calcification is not associated with Hajdu-Cheney syndrome.

2) Transverse acro-osteolysis [Hands and feet show two patterns of acro-osteolysis. Characteristic transverse band of osteolysis involving the distal phalanges and distal to proximal type of osteolysis [5] are seen].

3) Multiple enchondromas are not associated with Hajdu-Cheney syndrome.

4) Swann neck deformity is not associated with Hajdu-Cheney syndrome.

5) Laminar periosteal reaction is not associated with Hajdu-Cheney syndrome.



From the manuscript:
Hajdu-Cheney Syndrome: A case report with review of literature
Radiology Case. 2014 Sep; 8(9):1-8


This article belongs to the General section.




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From the manuscript

Hajdu-Cheney Syndrome: A case report with review of literature

Free full text article: Hajdu-Cheney Syndrome:  A case report with review of literature

Abstract
Hajdu-Cheney syndrome is a very rare connective tissue disorder. It has autosomal dominant inheritance or may occur due to spontaneous de novo mutation. Recent research suggests that it is caused by heterozygous mutation of terminal exon of NOTCH 2. Most characteristic findings include transverse band of acro-osteolysis involving the phalanges of both hands and feet and osteoporosis and deformities involving skull, mandible, spine and other bones. Patient may progressively develop kyphoscoliosis, basilar invagination, and bone fractures due to bone softening. Treatment is symptomatic. In this case report we present clinical and radiological features of a 43-year-old female patient who presented with features of Hajdu-Cheney syndrome.






References



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2. Simpson MA, Irving MD, Asilmaz E, Gray MJ, Dafou D, Elmslie FV. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nature Genetics 2011 Mar 6;43(4):303-5
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3. Zhao W, Petit E, Gafni RI, Collins MT, Robey PG, Seton M. Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome. Osteoporosis International 2013 Feb 7;24(8):2275-81
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4. Currarino G. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. Pediatric Radiology 2008 Sep 25;39(1):47-52
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5. Stathopoulos IP, Trovas G, Lampropoulou-Adamidou K, Koromila T, Kollia P, Papaioannou NA. Severe osteoporosis and mutation in NOTCH2 gene in a woman with Hajdu-Cheney syndrome. Bone 2013 Jan;52(1):366-71
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6. O`Reilly MA, Shaw DG. Hajdu-Cheney syndrome. Annals of the Rheumatic Diseases 1994 Apr 1;53(4):276-9
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