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Mutations in the Deafness-Dystonia 1 Gene Postlingual Progressive Sensorineural Deafness Mutation in the FOXP3 Gene Possibly Lymphadenopathy Variable Autoimmune Disorders No Vasopressin- or DDAVP-Induced Increase in Urine cAMP Vasopressin Normal or Increased Lower Urinary Tract Dilatation May Occur Onset of Pancytopenia at Median Age 10 Years Median Age at Onset of Leukoplakia: 7 Years Median Age at Onset of Nail Dystrophy: 7 Years Median Age of Onset of Pigmentation 8 Years - Range 1-15 Years Median Age of Diagnosis - 15 Years Caused by Mutation in the Dyskerin Gene (DKC1) Diffusion Capacity Decreased Pterygium Formation Longitudinal Splitting Reticulated Skin Pigmentation Predominantly on Face, Neck, Chest, Arms Chromosomal Rearrangements Increased Squamous Cell Carcinoma - Skin or Mucosa Conjunctival Leukoplakia Susceptible to Hyperthermia Mutation in the Ectodysplasin A Gene Hoarse Voice due to Dry Laryngeal Mucosa Atrophic Mucosa Causing Dysphonia Atrophic Pharyngeal Mucosa Blonde, Fine Scalp Hair Fine, Brittle Hair Hypoplastic or Absent Sebaceous Glands Skin Peeling or Scaling Mild, Localized Abnormalities of Pigmentation Sweat Pore Aplasia Adontia Palatal Depth Decreased Depressed Nasal Root and Bridge - 'Saddle Nose' Absent Meibomian Glands Absent Tears Small Facial Height Small Cranial Length Hypoplastic or Absent Mammary Glands Spheroids Mild Tissue Fragility Mild Scarring Lysyl Oxidase Activity Normal Short Neck with or without Webbing Small Short Nose Prominent Ear Lobules Upper-to-Lower Segment Ratio Increased Friendly, Sociable Personality Joint Hyperlaxity (Infancy) Affected Males Are All Result of New Mutation 90% of Cases in Females Majority of Cases (95%) Are Sporadic Anonychia of Toenails Absent Fingernails Onychodystrophy (Spooned Nails, Grooves) Hypoplastic Fingertip Epidermal Ridges Arborescent Papillomas - Axillae, Periumbilical Area, Anus, Vulva Localized Cutaneous Deposits of Superficial Fat Linear or Reticular Hyperpigmentation Failure of Pubic Bone Fusion Skeletal Asymmetry Papillomas - Lip Gingiva Alar Cleft Ectopia Lentis (6%) Microphthalmia (15%) Protruding Simple Ears Esophageal Papillomas Subglottic Tracheal Narrowing Wide, Elongated Phalanges Finger and Wrist Contractures Density of Long Bone Diaphyses Increased Erlenmeyer Flask Appearance of Femur and Tibia Contractures of the Knees and Ankles Flared Pelvis Wide Interpedicular Distance Hypoplastic Condyloid Process Incomplete Sinus Development Progressive Mixed Conductive and Sensorineural Hearing Loss Coat-Hanger Deformity of Lower Ribs Irregular Rib Contours Clinical and Biochemical Abnormalities Disappear with Age Fasting Ketosis Mild Elevation of Triglycerides Mild Elevation of Cholesterol Mild Elevation of Transaminases Variable Hypoglycemia Phosphorylase Kinase Normal in Muscle Liver Phosphorylase Kinase Deficiency Liver Histology Reveals Glycogen Distended Hepatocytes Mild Motor Development Delay Autosomal Recessive Cytochrome B Negative CGD 'Variant' Form of X-Linked CGD Retains Residual Cytochrome B Pneumonia due to Immunodeficiency Dermatitis Infectious due to Immunodeficiency and Impetigo NADPH Oxidase Activity Decreased Deficiency or Absence of P22-Phox Protein Deficiency or Absence of Cytochrome B Biopsy: Lipid-Laden Macrophages Tissue Biopsy Shows Granulomas