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Year : 2004  |  Volume : 14  |  Issue : 1  |  Page : 97-98
Radiological quiz - congenital anomaly


Dept of Radiology, Gujrat Cancer and Research Institute, Asarwa, Ahmedabad 380016, India

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How to cite this article:
Shah S S, Patel S B, Goswami K G, Shah S R, Odedra P A. Radiological quiz - congenital anomaly. Indian J Radiol Imaging 2004;14:97-8

How to cite this URL:
Shah S S, Patel S B, Goswami K G, Shah S R, Odedra P A. Radiological quiz - congenital anomaly. Indian J Radiol Imaging [serial online] 2004 [cited 2019 Nov 13];14:97-8. Available from: http://www.ijri.org/text.asp?2004/14/1/97/30311
A one and half year old female child presented with abnormal skull vault, abnormal facies and delayed milestones. Clinical examination showed an overly tall tower like skull vault, proptosis with slightly side-spaced eyes, a sunken-in appearance of the mid face and prominent lower jaw. The ears were low set. First, second, third and fourth fingers of both hands and all the toes of both feet were fused.

Skeletal Survey, CT Scan Brain and MRI Brain were performed and the relevant films are shown here. What is your diagnosis?



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   References Top

1.Hooshang, Taybi and Ralph Lachman: Radiology of syndromes, metabolic disorders and skeletal dysplasias. 3rd Ed: 11-13.   Back to cited text no. 1    
2.Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, et al : Birth prevalence study of the Apert syndrome. Am J Med Genet 1992 Mar 1; 42(5): 655-9   Back to cited text no. 2    
3.A textbook of Radiology and Imaging. Vol II: David Sutton; 5th Ed: 1385   Back to cited text no. 3    
4.Tod PA, Yelland JDN 1971: Craniostenosis. Clinical Radiology; 22:472-486   Back to cited text no. 4    
5.Pflanger K: Apert Syndrome. Radiol. Clin. North Am. 47:233, 1978.   Back to cited text no. 5    
6.Noetzel MJ, et al : Hydrocephalus and mental retardation in craniosynostosis. Jour. Paediatr. 107:885,1985   Back to cited text no. 6    
7.Hill LM, et al : The ultrasonic detection of Apert syndrome. Jour. Ultrasound Med. 6:601,1987.   Back to cited text no. 7    

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Correspondence Address:
S B Patel
Dept of Radiology, Gujrat Cancer and Research Institute, Asarwa, Ahmedabad 380016
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]



 

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    Discussion
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    Apert Syndrome
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