Indian Journal of Radiology and Imaging Indian Journal of Radiology and Imaging

RADIOLOGICAL QUIZ
Year
: 1999  |  Volume : 9  |  Issue : 3  |  Page : 149--150

Radiological quiz: Skeletal radiology


Archana Aggarwal, Seema Singhal, BB Thukral, NC Saxena 
 Department of Radiodiagnosis and Imaging, Safdarjung Hospital, New Delhi-110023, India

Correspondence Address:
Archana Aggarwal
198-D, Pundrik Vihar, New Delhi 110 034
India




How to cite this article:
Aggarwal A, Singhal S, Thukral B B, Saxena N C. Radiological quiz: Skeletal radiology.Indian J Radiol Imaging 1999;9:149-150


How to cite this URL:
Aggarwal A, Singhal S, Thukral B B, Saxena N C. Radiological quiz: Skeletal radiology. Indian J Radiol Imaging [serial online] 1999 [cited 2020 Oct 22 ];9:149-150
Available from: https://www.ijri.org/text.asp?1999/9/3/149/28324


Full Text

A twenty-five years old man of short stature presented with a fracture of the right leg following trivial trauma. On examination, the head size was increased with frontal bossing and the face was small. The hands and feet showed short terminal phalanges and koilonychia. Mentally the patient was normal.

A skeletal survey was advised [Figure 1],[Figure 2].

 View Answer

 RADIOLOGICAL DIAGNOSIS



Pyknodysostosis:

The skeletal survey reveals a generalized increase in bone density in all bones. The lateral radiograph of the skull [Figure 1] shows sclerotic margins, widening of the sutures, open anterior and posterior fontanelles and straightening of the angle of the mandible. The radiographs of both hands show terminal acro-osteolysis. The cortices are dense but the medullary canals are not completely obliterated. The chest radiograph showed normal lung fields and cardiac silhouette.

Pyknodysostosis is an autosomal recessive disorder of the skeletal system characterized by short stature, generalized hyperostosis, hypoplastic distal phalanges and skull dysplasia. The disease presents with a history of repeated fractures sustained as a result of trivial trauma [1]. The condition needs differentiation from osteopetrosis, cleidocranial dysostosis and progressive diaphyseal dysplasia. Osteopetrosis can be recognized by associated anemia, hepatosplenomegaly and by the absence of skull, mandibular and phalangeal pathology [2]. Cleidocranial dysostosis while involving the cranium and clavicles characteristically spares the mandible and phalanges. Bone density and height are unaffected [3]. Progressive diaphyseal dysplasia is predominantly a disorder of long bones wherein the density, width and length are increased but the skull and phalanges are normal. The family needs to be reassured regarding the nature of the disease. The tendency of spontaneous fractures reduces with age [4].

References

1Elmore SM. Pyknodystosis: A review. J Bone Joint Surg 1967; 49A: 53-161.
2Behrman RE, Vaughan VC, Nelson WE. The bone and joints. Genetic skeletal dysplasis. In: Nelson's textbook of pediatrics. Philadelphia: WB Saunders Co, 1987: 1370-1372.
3Shah KN, Bajaj RT. Pyknodystosis: Case report of two patients. Indian Pediatrics 1979; 16: 187-190.
4Kumar R, Misra PK, Singhal R. An unusual case of pyknodysostosis. Arch Dis Child 1988; 63: 558-560.