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Genitopatellar syndrome is an extremely rare, autosomal dominant disorder characterized by the association of absent patellae, genital anomalies, dysmorphic features (coarse face, large nose, microcephaly), renal anomalies (multicystic kidneys or hydronephrosis), cardiac defects, and intellectual deficit. Constant skeletal manifestations include flexion deformities of the knees and hips with club feet. It is caused by mutations in KAT6B which encodes for histone acetyltransferase 6B enzyme involved in gene regulation....
http://www.jcnonweb.com/article.asp?issn=2249-4847;year=2016;volume=5;issue=4;spage=265;epage=267;aulast=Soni
http://www.jcnonweb.com/article.asp?issn=2249-4847;year=2016;volume=5;issue=4;spage=265;epage=267;aulast=Soni
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