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Short Ilium Flat Acetabula Mild Interpedicular Narrowing Squared Vertebrae Central Vertebral Hypoplasia Infantile Platyspondyly Severe Lumbar Lordosis Mild Splenomegaly Mild Hepatomegaly Splayed Ribs Narrow, Bell-Shaped Thorax Onset at Age 2-12 Months Mutations in the MPI Gene Fragile Scalp Hair Prominent Palmar Flexion Creases Trident Configuration of Acetabular Roof Wafer-Thin Platyspondyly Generalized Myelin Loss Severe Diffuse Neuronal Loss Small Cerebellum Progressive CNS Degeneration Often Presents with Cranial or Cervical Involvement Allelic Disorder Causes Nephronophthisis 1 Genetich Heterogeneity - See Joubert Syndrome Types 1, 2, 3 Phenotypically Mild Form of Joubert Syndrome Caused by Deletion in the Nephrocystin Gene Tubulointerstitial Medullary Cystic Kidney Disease Long Thickened Cerebellar Peduncles Molar Tooth Sign on MRI Mild Gross Motor Delay Head 'Tilt' in Infancy Mild Hypotonia Symmetrical Oval Defects in the Parietal Bone Cone-Shaped Epiphysis Epiphyses of the Fingers Enlarged Megaepiphyses Distal Ulnar Epiphyseal Calcifications Upper Limb Mesomelic Shortening Pubic Punctate Calcification Rotated Ears Cytogenetic Breakpoints Range from 10q23.3-q26.2 Affectionate Behavior Variable Developmental Delay Genetic Heterogeneity - See Familial Hemiplegic Migraine Type 1 Variable Frequency and Duration of Episodes Onset in First 2 Decades Most Become Wheelchair-Bound Late in Life Mean Age at Onset of Proximal Muscle Weakness: 31 Years Mean Age at Onset of Bone Fractures 24 Years Soft, Thin Skin Creatine Kinase Normal or Mildly Increased Alkaline Phosphatase Normal or Mildly Increased Narrow Medullary Cavities Coarse, Sclerotic Trabeculae Patchy Sclerotic Changes in Long Bones Radiolucency of the Bones Muscle Biopsy Shows Nonspecific Myopathic Changes Distal Limb Muscle Weakness Occurs Later Proximal and Distal Muscle Atrophy Profound Prelingual Sensorineural Deafness Mutation in the Insulin Receptor Gene Insulin-to-C-Peptide Ratio Elevated Fasting Hyperinsulinemia Blood-Spot Hydroxybutyryl-Carnitine Increased Mental Retardation due to Repeated Episodes of Hypoglycemia Allelic to CLN8 Protracted Course of Disease Decrease in Seizure Frequency in Middle Age Age of Onset 5 10 Years Caused by Mutation in the CLN8 Gene (CLN8) Intracellular Granular Material on Ultrastructural Analysis Irritability Beginning at Puberty Cerebral Atrophy Progressive Mental Deterioration Beginning 2 to 5 Years after Onset of Seizures Seizures Onset Age 5 to 10 Years Plasma 2-Methylbutyrylcarnitine Increased Urine 2-Methylbutyrylglycine Increased Global Developmental Delay if Untreated Diffuse Islet Cell Hyperplasia Pyruvate-Induced Insulin Secretion Exercise-Induced Hyperinsulinism Hyperinsulinemic Hypoglycaemia Congenital Contralateral Hemiparesis Mutation in the FGFR3 Gene Vertebral Height Increased Mean Age at Onset: 66.8 Years (Range: 47-77 Years) Neuroimaging Shows Cortical Atrophy Affects All Frequencies Profound Deafness Prelingual Onset Onset Usually in Adolescence Cysts May Become Calcified Cysts May Contain Degenerated Keratin Cysts Are Lined by Epidermal Cells Cysts Are Firm and Smooth Cysts May Disappear Spontaneously (10%) Cysts May Become Infected Cysts May Gradually Increase in Size Cysts May Be Multiple Cysts May be Solitary (30%)