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Darkly Colored Teeth (reddish-Brown) Absence of Sulcus Orbitopalpebralis Superior - Upper Eyelid Crease Multiple Episodes of Choking in 1st Year of Life Birthweight < 10th Percentile Sex Ratio - 2.3 Males-to-1 Female Malsegmentation Medial Cleft Lip and Palate Cebocephaly Vaginal Septum Deep Scrotal Raphe Absent Olfactory Tracts and Bulbs Often Reared as Females until Puberty XY Karyotype Male Pubertal Voice Change Scanty Pubertal Beard 5 Alpha-Reductase 2 Enzyme Deficiency Cryptorchid Testes No Mullerian Structures Wolffian Differentiation Blind Perineal Pouch Resembling Vagina Testosterone Normal or Increased Defective DHT Formation Plasma Dihydrotestosterone Is Decreased No Breast Development or Menstruation at Puberty Masculinization at Puberty Clinical Onset within First 2 Years of Life 25-Hydroxyvitamin D3 Normal 1,25-Dihydroxyvitamin D3 Markedly Decreased or Absent See for Description of Heterozygous Phenotype Majority of Cases Diagnosed at Age 10-15 Years Mutations in the ABCC6 Gene Renovascular Hypertension Intermittent Claudication (30%) Calcifications Brown Macules in Reticulate Pattern Chronic Granulomatous Nodules Acneiform Lesions Extrusion of Calcium Deposits Lax, Wrinkled Skin Yellowish, Flat Plaques Progression of Skin Lesions Mucosal PXE Lesions (Inner Aspect of Lower Lip, Cheeks, Palate) Owl's Eyes (Paired Hyperpigmented Spots) Mutation in the SLC34A2 Gene Possibly Progressive Fibrosis Pulmonary Function Tests Show Restrictive Deficit Diffuse Bilateral Medial and Basal Lung Involvement Intraalveolar Nodular Calcifications ('Microliths') Often Fatal in Utero Mild Bronchodysplasia Pleural Membrane Thickening Interstitial Markings On X-Ray Episodic Lymphangitis Edema Reoccurs with Infections Edema Is Present at Birth and Then Slowly Decreases Subcutaneous Generalized Edema Mild Growth Retardation Mutations in the Cathepsin K Gene Flattened Nails Wrinkled Skin over Dorsa of Fingers Acro-Osteolysis of Distal Phalanges Narrow Ilia Obtuse Angle of Mandible Delayed Suture Closure Dense Skull Susceptibility to Fracture Eruption of Deciduous Teeth Delayed Anterior Fontanelle Open in Adults Frontal and Occipital Prominence Adult Height: <150 cm Aplasia of Clavicle Abnormal IGFR1 Function Number of IGF1 Receptors on Cell Surface Decreased Secretion of IGF1 in Response to Growth Hormone Decreased Insulin-Like Growth Factor 1 Decreased Average Adult Female Height 135 cm Average Adult Male Height 142 Cm (4'8") Short Stature from Birth No Growth Response to Exogenous Growth Hormone Patients Are Often Asymptomatic Mild Supraorbital Hyperplasia Thickened Medial Ends of Clavicle Thickened Sternal Ends of Ribs Responsive to Pyridoxine Prenatal or Neonatal Onset Mutation in the ALDH7A1 Gene Cerebrospinal Fluid and Serum Levels of Pipecolic Acid Increased Abnormal Prenatal Movement Delayed Psychomotor Development (Mild to Severe) Group C: Relatively Benign Group B Patients Die by 3 Months of Age Can Be Categorized into 3 Groups Possibly Responsive to Thiamine Onset at Birth or Early Infancy Mutation in the PC Gene A Subset of Group B Patients Have Absence of PC Protein and mRNA Presence of PC-mRNA Immunoreactive PC Protein Acetoacetate : Beta-Hydroxybutyrate Ratio Increased Lactate/Pyruvate Ratio Increased (Group B)