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Normal Nerve Conduction Velocities Onset of Neurologic Symptoms in Teenage Years Distal Muscle Atrophy More Severe in the Upper Limbs See-Saw Winking Macular Red Spot Preaxial and/or Postaxial Polydactyly Forked Metatarsal Bifid Halluces Hypoplasia of the Tibia Oral Frenula Tongue Lobulation Visual Symptoms Present by Late Childhood Tubular Aggregates in Type 2 Skeletal Muscle Fibers Lysine, Glutamic Acid, and Glutamine Decreased Urine Ornithine, Lysine, Arginine Elevated Ammonia not Elevated Ornithine-Delta-Aminotransferase Deficiency Ornithine Increased (~10-fold) Blindness - Onset in Fourth or Fifth Decade Progressive Loss of Peripheral Vision Night Blindness (Onset in First Decade) Myopia - Onset in First Decade Progressive Chorioretinal Degeneration Absent Facial, Axillary, Body Hair Short Terminal Phalanges Cystic Bone Lesions Joint Contractures (Fingers, Hips, Knees) Downward Sloping Ribs "Popcorn" Calcification Intrauterine Fracture Short Deformed Femurs Bowed Limbs due to Multiple Fractures Blue Sclerae at Birth Becoming Normal with Age Adult Height 92-108 cm Congenital Short-Limbed Dwarfism Thin Gracile Ribs Hyperpigmented Erythematous Lesions Interleukin-1 Beta Increased Antinuclear Antibody Elevated - Speckled Pattern Metatarsal Shaft Widened Fusiform Finger Swelling Onset in Early Childhood - Age 3 Loose Volor Skin of Hands Normal Tarsals Severe Bone Resorption of Feet Carpals Normal Osteolytic Defects of the Proximal Phalanges of the Hand Absent Distal and Middle Phalanges Loose Volar Skin of Hands Distal Ulnar Epiphyseal Osteolysis Phosphorus Increased Marked Metaphyseal Flaring of Long Bones Narrowness of Neural and Vascular Foramina Thick Dense Skull Bone-Within-Bone Appearance Uniformly Dense Skeleton Distorted Primary Molars Seizures with Tetany Onset of Bone Fragility in Childhood Mutations in the LRP5 Gene Long Bone Deformities Narrow Diaphyses Intraocular Calcification Blindness - Onset in Infancy Mostly Normal Intelligence Broad Range in Severity of Presentation in Sibships Moderate Age-Related Improvement of Pancreatic Function Mutation in the SBDS Gene Respiratory Distress in Neonatal Period Persistent or Intermittent Neutropenia Trypsinogen Decreased Fecal Fat Abnormal Metaphyseal Chondrodysplasia of Long Bones Severe Fat Maldigestion Pancreatic Lipomatosis Irregular Ossification of Anterior Rib Ends Onset at Birth or in Infancy Tented Upper Lip Curved Upper Lip Optic Atrophy by 2 Years of Age Pear Shaped Face MRI Shows Dysmyelination Progressive Brain Stem Atrophy Seizures (Onset at Mean Age of 4-5 Months) Progressive Infantile Encephalopathy Lack of Developmental Development Syndactyly (2-5) Proximal Finger Flexion Creases Absent Anterior Rounding of Vertebral Bodies Monthly to Bimonthly Attacks Length of Attack: 3-7 Days Onset of Symptoms Less than One Year Eruptions Erythrocyte Sedimentation Rate Increased (Mean: 90 mm/h) Urine Mevalonic Acid Mildly Increased Lymphadenopathy - Cervical Inguinal Axillary IgA Elevated - Equal to or Greater than 2.6 g l<sup>-1</sup> Mutation in the GIF Gene Megaloblastic Erythroid Hyperplasia (Bone Marrow Biopsy) Absence of Auto Antibodies to Intrinsic Factor or Parietal Cells