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Bilateral Bronchiectasis Unilateral Bronchiectasis CD8+ : CD4+ Ratio Normal Dystrophic Changes on Biopsy Deficiency of Laminin Alpha 2 Chain of Merosin in Muscle Involvement of Diaphragm Wasting of Pectoralis Muscles Onset at Age 3-5 Years Atrophy of the Caudate Frontal Cortical Atophy Small but Structurally Normal Cerebral Cortex Age of Onset 5 to 22 Years Mutation in the COL11A1 Gene Arthropathy (Onset Third Fourth Decade) Slender Extremities Mild Spondyloepiphyseal Dysplasia Normal Collagen Type 1 Studies 3rd-4th Toe Clinodactyly Good Response to Medication Ictal EEG with Bisynchronous Spikes Frequent Long-Lasting Myoclonic Seizures (Several Hours) Nevi Flammei Deep Plantar Crease Unusual Upper Limb Position (Elbow and Wrist Flexion) Upper Limb Rhizomelia Hypoplastic Orbital Ridges Ridged Metopic Suture Severe Gastroesophageal Reflux Focal Nodular Heterotopia Age at Onset: 43-64 Years Prion Protein-Positive Senile Plaques Beta-Amyloid-Positive Senile Plaques Sensorineural Hearing Loss due to Auditory Neuropathy Mean Age at Onset 15.2 Years Diminished Force of Urine Stream Position Sense Decreased Profound Prelingual Deafness - Affects All Frequencies Cataracts in Second or Third Decade Reduced Visual Acuity by Age 3 Years Head is Flexed Forward Skull Is Flexed Forward on the Spine Quadrupedal Gait (Palm of Hands, Legs Straight) with Diagonal Walking Cerebellar Cell Paucity More Marked in Vermis than Hemispheres Dentate Nuclei Absent or Immature Dysplastic C Shaped Inferior Olivary Nuclei Severe Olivopontocerebellar Hypoplasia Cachectic Appearance Cellular Sensitivity to UV Light Increased DNA Excision Repair Decreased Palate Telangiectasia Tongue Telangiectases Telangiectasia of the Lips Nasal Mucosa Telangiectases Spontaneous Recurrent Epistaxis Arterial Aneurysm of Celiac and Mesenteric Vessels Narrow Ear Lobes Short Tapering Fingers Iliac Hypoplasia Loose Nuchal Skin Cystic Dental Follicles Narrow-Arched Palate Labiogingival Retraction Abnormal Scapula Absent Clavicle Severe Developmental Delay in Survivors Thin Dry Hair Reduced Subcutaneous Adipose Tissue Abnormal Myelination in Sural Nerve Biopsy At Least 2 Complementation Groups Thymic Hormone Decreased Ivory Epiphyses of the Fingers Mild to Moderate Joint Limitation Small Squared-Off Pelvis Vertebral Body Abnormalities Absent or Hypoplastic Teeth Retinal Pigment Epithelial Mottling Cachectic Dwarfism Severe Postnatal Growth Retardation Nerve Conduction Velocity Decreased Mild Shortening of Metacarpals Narrow Hands Mild Lumbar Lordosis Short 2nd and 4th Digits Dark Brown Discoloration Progressive Central Vision Loss Maculopathy Distal Syndactyly Ring-Like Finger Constrictions Orbital Clefts Abdominoschisis Poor Suck in Infancy Associated with Advanced Paternal Age Thin Anterior Head Hair Papillomas in Perioral, Nasal and Anal Regions Dark Skin Pigmentation Cutis Laxa (Especially Hands and Feet) Palmar Nevi Wide Distal Phalanges Loose, Redundant Neck Skin Thickened Lobes