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Short Iliac Wings Anterior Tongue-Like Deformity Electroretinogram Decreased Onset at Age 4 Years 'Curvilinear' Profiles Ultrastructurally Fibroblasts Demonstrate Rapid Growth with Increased DNA Synthesis Fibroblasts Show Increased Sensitivity to Apoptosis Fibroblasts Attach Poorly Fibroblasts Small and Rounded with Prominent Nucleoli Apoptotic Neurons 'Ballooned' Neurons with Autofluorescent Fine Granular Material Slowing with Polyspike-and-Slow-Waves Psychomotor Deterioration Onset in Early Infancy between 2 Weeks and 3 Months Inability to Reach Startle Myoclonus Tonic Spasms Severe Metabolic Acidosis Increased Serum Direct Bilirubin Onset in Middle Age - 44 to 60 Years Mutation in the Amyloid Precursor Protein Gene Hyaline Thickening of Cerebral Arteries Recurrent Strokes Recurrent Cerebral and Cerebellar Hemorrhage Progressive Dementia with Onset of Disease Progressive Permanent Flexion Limitation of Toes Progressive Permanent Flexion Limitation of Fingers Hyporeflexia in Affected Muscles Hip Girdle Muscle Weakness Normal Cochlear Microphonics Normal Otoacoustic Emissions Normal Outer Hair Cell Functions Abnormal Amplitude Modulation Detection Abnormal Gap Detection Abnormal Auditory Temporal Processes Abnormal or Absent Auditory Nerve and Brainstem Responses Hearing Loss - Neural Type Average Age at Onset 18.6 Years No Auditory Brainstem Response Intestinal Aganglionosis Myenteric and Submucosal Ganglia in the Bowel Decreased Mutation in the SRY Box 10 Gene White Eyebrows Hypopigmented Skin Patch Distal Muscle Weakness due to Peripheral Neuropathy Absence of Exophthalmos Usually Requires Total Thyroidectomy Phenotypic Variation Age at Onset Ranges from Neonatal to Adulthood Absence of Pretibial Myxedema Absence of Dermopathy Free Thyroid Hormones Increased Absence of Anti-Thyroid Antibodies Absence of Immune Complexes and Lymphocytes in Thyroid Tissue Distinct Disorder from Parkinson Disease Onset 30-40 Years of Age Symmetric Lesions of the Basal Ganglia No Response to L-Dopa Treatment No Tremor Slowly Progressive Dysarthria Hypoplastic Metatarsals Prominent Trochanter Narrow Short Femoral Neck Irregular Sclerotic Acetabula Rectangular Lumbar Spinal Canal Internal Auditory Canal Hypoplasia Short Distal Phalanges - Toes 2-4 Bone Erosions (5th Finger) Pointed Phalanx (5th Finger) Short Distal Phalanx - 5th Finger Bicuspid Pulmonary Valve Translucent Skin Velvety Texture Plasma Renin Normal Plasma Cortisol Low Plasma Adrenocorticotropic Hormone Elevated Caused by Mutations in the Myotilin Gene Phagocytic Vacuoles with Degraded Membranous Material Increased Staining for Myotilin Dystrophin Desmin Congophilic Staining EMG Shows Myopathic and Neurogenic Changes Muscle Stiffness or Aching Proximal Muscle Involvement May Occur Progressive Distal Muscle Weakness Subscalp Nodule (1.5-4 cm) Atretic Occipital Cephalocele Head Circumference Large for Gestational Age Bony Defect with Cephalocele Normal Neurologic Development in Most Cases Short Trunk - Short Stature < 3rd - 50th Percentile Flattened Capital Femoral Epiphyses Hip Abduction Decreased Caused by Mutation in the Melanophilin Gene Mutation in the MYO5A Gene Large Clumps of Pigment Irregularly Distributed Along Hair Shaft Silver-Gray Eyebrows Silver-Gray Eyelashes No Immunologic Abnormalities Type 1 Has Most Severe Manifestations by Age 4-5 Years Type 1: Onset at 8-15 Months of Age after Normal Development