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Female Preponderance High Inter- and Intrafamiliar Variability of Phenotype Dysplastic Pulmonary Valve Cardiac Abnormalities Interstitial or Terminal Deletion of 18q Planovalgus Tapering Digits Atopic Disorders (Eczema, Food Allergy, Asthma) Protuberant Lower Lip Short Frenulum Downturned Corners of the Mouth Large, Dysmorphic Ears Malformed Earlobes Narrow Biparietal Diameter Prominent Abdominal Venous Pattern Dysphonia due to Muscle Weakness Rimmed Vacuoles with Basophilic Granular Material Angulated Atrophic Fibers EMG Shows Myotonic Changes Finger and Wrist Extensor Weakness Foot Extensor Weakness Dysphagia due to Muscle Weakness Parieto-Occipital Alopecia Overlapping Sutures Large Anterior Fontanels Fusion of Dentate Nuclei and Superior Cerebellar Peduncles Agenesis or Hypogenesis of the Cerebellar Vermis Head-Rolling Movements Trigeminal Anesthesia Levels of Vitamin B12 Elevated Interleukin 10 Increased Allelic to Oto-Spondylo-Megaepiphyseal Dysplasia Allelic Disorder to Stickler Syndrome Type 3 Congenital Non-Progressive Non-Syndromic Sensorineural Hearing Loss Short Deep Set Toenails Horizontal Chin Cleft Nail Dystrophy with Overcurvature Numerous Large Keratohyaline Granules in Superficial Keratinocytes Mild Superficial Perivascular Lymphohistiocytic Infiltrates Mean Age at Onset: 12.5 Years Mutation in the TCAP Gene Cardiac Muscle Is Involved in a Subset of Patients Creatine Kinase Levels May Normalize with Disease Progression Absence of Telethonin Protein Centralized Myonuclei Necrotic and Regenerating Muscle Fibers Progression to Wheelchair in Fourth Decade Calf Hypertrophy Difficulty Walking Running Proximal and Distal Muscle Atrophy in Lower Limbs Severe Distal Muscle Weakness in Lower Limbs Straw-Like Fragile Hair Trichodystrophy Single Thumb Crease Thick Coarse Lips Hypoplastic Halluces Round Nasal Tip Low Nasal Root Onset of Choreoathetosis in Childhood or Young Adult Average Onset of Seizures 6 Months Exertion or Anxiety May Trigger Involuntary Movements Severe Limitations of Eye Movements Unilateral Hypertropia Unilateral Hypotropia Eyes Fixed in Extreme Abduction (Exotropia, Strabismus Fixus) Bilateral Ptosis Onset Usually at Age >40 Most Commonly Affected Site Deformity or Enlargement of Bones Mixed Regions of Osteosclerosis and Osteolysis Deafness in 30-50% of Patients with Skull Involvement Hyperkalemic Metabolic Acidosis Neonatal Death Secondary to Pulmonary Insufficiency Multiple Renal Cortical Microcysts Tabular Atrophy Absence of Corticomedullary Differentiation Ultrasound Shows Enlarged Hyperechogenic Kidneys Renal Failure by Age 3 Complete Vestibular Areflexia Improvement of Epimetaphyseal Changes with Age Mutation in the MMP13 Gene Metaphyseal Cupping Small Flattened Epiphyses Flaring of Iliac Wings Schmorl Nodule Appearance Mild Platyspondyly (Adults) Irregular Sclerotic Endplates (Adults) Normal Odontoid Process Pear-Shaped Vertebrae Adult Female Height 152 - 167 cm Adult Male Height 167-173cm Flared, Irregular Rib Ends Symptoms Remain Focal Age of Onset: 28-70 Years Dystonic Writer's Cramp Postural Hand Tremor Prominent Veins Partial Cutaneous Syndactyly Desmosterol Increased Gingival Nodules