(a) Normal Drosophila larva on left (a) Normal Drosophila larva on left. The larva on the right has a mutation in the hedgehog gene. (b) Patient with holoprosencephaly with severe bilateral cleft lip and palate. He has a positive family history with 2 half-brothers also affected. (c,d) Brain MRI of the boy in frame b showing incomplete ventral induction (separation of midline)—semi-lobar holoprosencephaly. (e) Their mother has a minor expression of the condition as a single central incisor. She and all 3 boys have an SHH mutation. (a: Reprinted with permission from van den Brink GR. Hedgehog Signaling in Development and Homeostasis of the Gastrointestinal Tract Physiol Rev October 2007 87:(4) 1343-1375; doi:10.1152/physrev.00054.2006.) Source: Of Fruit Flies, Mice, and Patients: Tying It All Together, Medical Genetics: An Integrated Approach Citation: Schaefer G, Thompson, Jr. JN. Medical Genetics: An Integrated Approach; 2017 Available at: http://accessmedicine.mhmedical.com/DownloadImage.aspx?image=/data/books/2247/schaefer_ch16_f003e-1.png&sec=173745550&BookID=2247&ChapterSecID=173745502&imagename= Accessed: December 30, 2017 Copyright © 2017 McGraw-Hill Education. All rights reserved