Schinzel Giedion syndrome
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Schinzel-Giedion syndrome is a rare genetic syndrome. Common symptoms include kidney and urinary malformations, skeletal abnormalities, severe developmental delay, and a characteristic facial appearance.[1][3][4] Recurrent pneumonia, feeding intolerance, and seizures are frequent difficulties in the care of affected children.[2] The underlying genetic defect that causes the condition has not yet been identified.
References
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Minn et al.. Further Clinical and Sensorial Delineation of Schinzel-Giedion Syndrome: Report of Two Cases. American Journal of Medical Genetics. 2002.
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Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Clinical Report Schinzel-Giedion Syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria. American Journal of Medical Genetics. 2008.
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Rr. P. Labrune. Schinzel-Giedion midface retraction syndrome. Orphanet. 2004 Available at: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=798. Accessed October 30, 2008.
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. Syndromes of the Head and Neck, 4th ed. In: . . :; 2001:
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