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Hypoplastic Right Scapula Hypoplastic Right Clavicle Unilateral Bifid Hallux Bilaterally Absent Thumbs Unilateral Hypoplastic Patella Hyperelastic Knee Joints Shortened Humeri Aplasia or Hypoplasia of the Radius Exacerbation at Puberty Turtle-Backed Nails Thickened, Furrowed Skin Urine Prostaglandin E2 Increased Expanded Metaphyses Diaphyses Expanded Prominent Facial Folds Severe Disease with Onset in First Months of Life (10%) Variable Age at Onset but Usually in Childhood Calcinosis Cutis Metastatica AGT Activity Decreased Diffuse Deposition of Calcium Oxalate in Various Tissues Hyperglycolic Aciduria Occurs in about 1 in 10,000 Births Mutation in the QDPR Gene Urine and Cerebrospinal Fluid Biopterin Increased Diurnal Fluctuation of Neurologic Symptoms Progressive Neurologic Deterioration if Untreated Variable Severity: from Central Severe to Peripheral to Transient Mutation in the 6-Pyruvoyl-Tetrahydropterin Synthase PTS Gene PTS Activity Decreased or Absent Cerebrospinal Fluid and Urine Neopterin Increased Cerebrospinal Fluid HVA and 5-HIAA Decreased Uncoordinated Movements Hypertonia of the Extremities Mutation in the PGAM2 Gene Muscle Biopsy Shows PAS-Positive Glycogen-Containing Vacuoles Mutation in the PHKB Gene Mild Weakness Glycogen Accumulation in Both Liver and Muscle Phosphorylase Kinase Deficiency in Liver and Muscle Follicle Stimulating Hormone Low or Absent Sequential Loss of Anterior Pituitary Tropic Hormones Laboratory Findings Are Variable Adrenocorticotropic Hormone Low or Absent Luteinizing Hormone Decreased or Non-Detectable Abnormal Petrous Bone Very Small Sella Turcica Hypothyroidism if Untreated Death Usually in Infancy or Early Childhood Absence of Necrosis Absence of Hyaline Membranes Preservation of Normal Parenchymal Architecture Variable Interstitial Fibrosis May Be Present Diffuse Filling of Alveoli with Pigmented Macrophages Plump Hyperchromatic Alveolar Lining Cells or Type 2 Pneumocytes Alveolar Septa Thickened Interstitial Lymphoplasmocytic Inflammation (Lung Biopsy) Radiograph Shows Ground-Glass Appearance Radiography Shows Bilateral Diffuse Interstitial Infiltrates Complex Cardiac Malformation Nail Hypoplasia Episodic Paralysis after Strenuous Exercise Favorable Response to BH4 Therapy Neurologic Signs May Not Be Present Neurologic Signs Are Present in the Neonatal Period Only Generally Mild Phenotype Cerebrospinal Fluid Neurotransmitters Normal Increased Urinary Neopterin Urine 7-Biopterin Increased Mild Transient Motor Development Delay Mild Transient Hypertonia Mild Transient Hypotonia Abdominal Muscle Hypoplasia Broad Flat Nasal Tip Eversion of the Lower Eyelids Umbilical Depression Minimal Response to Surfactant Treatment Death Usually Occurs in the First Weeks to Months of Life Onset in Infancy - First Hours to Weeks of Life Possibly Bronchopulmonary Dysplasia Later Immunostaining for Surfactant Proteins A and Pro-C Increased Immunostaining for Surfactant Protein B Decreased or Absent Insidious Onset in the Late First through Third Decades Affected Infants Appear Normal Mutation in the PEX7 Gene Cardiac Failure (Sudden Death Reported) Phytanic Acid Oxidase Activity Decreased Phytanic Acid in Body Tissues and Fluids Increased Nerve Hypertrophy Limb Atrophy Cerebrospinal Fluid Protein Increased, Cell Count Normal Fibrin-Rich Alveolar Deposits - 'Hyaline Membranes' Surfactant Decreased Premature Delivery (<37 Weeks of Gestation) Adult Onset Cerebellar Ataxia Nail Dysplasia (35%) Elbow Supination Limited Thoracic Hemivertebrae (98%) Short Neck (31%) Crowded Teeth Bifid Tongue (59%)