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Severe Autoimmune Cytopenia Panhypogammaglobulinemia or Agammaglobulinemia Reduced CD4+ Count and Proportionally Increased CD8+ Count Normal Number of T and B Lymphocytes Susceptible to Vaccine-Induced Polio Frequent Protozoan, Bacterial, Viral, and Fungal Infections Absence of Humoral and Cellular Immune Response to Foreign Antigens Severe Colitis Variable Degree of Villous Atrophy Pseudosclerosing Cholangitis Progressive Liver Disease Enteric Salmonellosis Onset Early in First Decade Contractures of the Lower Limbs Posterior Column Sensory Loss Metabolic Decompensation Precipitated by Illness Episodic Metabolic Acidosis Not Responsive to Biotin Treatment May Be Present in Asymptomatic Adults Possibly Episodes of Severe Metabolic Decompensation in Infancy 3-Methylcrotonyl-CoA Carboxylase Activity Decreased (<2%) Acute Ketonuria Acute Hyperammonemia Secondary Decrease of Plasma Free Carnitine Chronic Renal Excretion of 3-Hydroxyisovaleric Acid Chronic Urinary Excretion of 3-Methylcrotonylglycine Acute Macro- and Microvesicular Steatosis Neurologic Sequelae Not Always Present Other Half Show Head Circumference More Retarded than Height Mutation in the ATR Gene Sister Chromatid Exchange Increased Cone-Shaped Epiphyses of Phalanges Ivory Epiphyses (phalanges) Relatively Large Eyes Absence of Earlobe Low-Set, Malformed Ears Average Birth Weight 1540 g Arachnoidal Cysts Death Often Secondary to Infectious Disease Infants Are Stillborn or Die before Age 1 Relatively Large Feet Relatively Large Hands Horizontal Iliac Wings Steep Skull Base Large Fleshy Nose Focal Medullary Hypoplasia Thin Diaphyses of Long Bones Delayed and Dysharmonic Bone Age Severe Osteoporosis Steep Narrow Forehead V-Pattern Esotropia Predisposition to Neoplasia Life-Threatening Infections IgA IgG IgM Decreased High Frequency of Chromosome Breaks in Lymphocytes SCE Normal in Heterozygotes High Rate of Sister Chromatid Exchange Impaired Lymphocyte Proliferation in Response to Malignancy Immunoglobulin Deficiency (IgA, IgG, IgM) Hypersensitivity to Chemotherapy Average Adult Female Height 144 cm Average Adult Male Height 151cm Dimples Short Dumbbell-Shaped Humeri Bowing of Radius Bowed Limbs - Lower Greater than Upper Limbs Short Wide Iliac Wings Anteriorly Cupped Ribs Wavy Short Ribs No Pubic Hair Short Toes - 2nd-5th Tarsal Hypoplasia Thin Eyelashes Unpigmented Areola Terminal Transverse Limb Reduction Anomalous Ribs Short Metatarsals - 4th and 5th Camptodactyly (2nd - 5th Fingers) Hypoplastic 5th Lumbar Vertebrae Frontal and Ethmoidal Sinuses Absent Small Downturned Mouth Downslanting Ribs Mortality Approximately 20% in First 2 Years Orange Peel Skin Phosphomannomutase Deficiency in Leukocytes Fibroblasts or Liver Copper Iron Zinc Decreased Factors IX - XI - XII Decreased GlcNAc Transferase II Deficiency in Fibroblasts and Mononuclear Cells Soft Tissue Tumors of the Tongue Rhythmic Tongue Movements 'Tilted' Ears Occipital Myelomeningocele Occipital Meningocele See also Childhood-Onset Form Asymptomatic Younger Patients Show Characteristic Basal Ganglia Calcifications Phosphorus Normal Calcification of Small Brain Vessels CT Scan Shows Dense Calcifications in the Basal Ganglia Urine 7α-Hydroxylated Bile Alcohols Increased Cholestanol Increased