| Front | McCure-Albright Syndrome |
| Back | G-protein signaling mutation, resulting in unilateral cafe-au-lait spots with ragged edges, polycystic fibrous dysplasia, one endocrinopathy (ex. precocious puberty), lethal if before fertilization mutation because affects all cells but survivable with patients with mosaicism |
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| Front | 22q11 deletion syndromes |
| Back | Cleft palateAbnormal faciesThymic aplasia, T cell deficiency Cardiac defectsHypocalcemia secondary to parathyroidaplasia Due to aberrant deviation of 3rd and 4th branchial pouches |
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| Front | Osteogenesis Imperfecta |
| Back | Autosomal dominant, COLIA1 and COLIA2 Decrease in collagen Type I, problem with forming triple helix after glycosylationBones-multiple fracturesI (eye)- blue sclerae due to translucent CT over choroidal veins Teeth- tooth abnormalities (decrease in dentin)Ear- hearing loss (abnormal ossicles) |
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