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Episodes of Fatigue or Weakness Splenectomy Increases Thrombotic Risk in These Patients Mutation in the PIEZO1 Ion Channel Gene Susceptibility to Thrombosis Perinatal Pericardial Effusion Perinatal Pleural Effusion Increased Hemolysis by Shear Stress Increased Red Blood Cell Membrane Permeability to Univalent Cations Ektacytometric Osmotic Gradient Curve Shifted to the Left Eccentrocytes Stomatocytes (Number Varies) Hepatosiderosis Perinatal Ascites Contiguous Gene Syndrome Involving Mutation of Genes on 7q11.2 Considered a Benign Disorder Mean Corpuscular Volume May Mildly Increased or Normal Cobalamin Decreased Death in Utero or in the Perinatal Period Mutation in the Integrin Alpha 8 Gene Ears Deficient in Cartilage Large Low Set Ears Ureteral Aplasia White Ash Leaf Shaped Macules Cystic Areas of Bone Rarefaction - Especially Phalanges Episodic Muscle Weakness Red Cell Anisopoikilocytosis Platelets Have Decreased Expression of Glycoprotein Ib Alpha Megakaryocytes Are Abnormally Stretched Along Bone Marrow Sinuses Megakaryocytes with Hypolobulated Nuclei or Separated Nuclei Megakaryocytes Have Dysplastic Features Abnormal Megakaryocytes Increased (Bone Marrow) Variable Reductions in Platelet Aggregation α-Granules in Platelets Decreased or Absent Gray Platelets Moderate to Severe Bleeding Tendency Some Patients Show No Bleeding Abnormalities Caused by Mutation in the Integrin Beta 3 Gene Caused by Mutation in the Integrin Alpha 2B Gene Variable Platelet Functional Defects Bleeding Tendency Mild Mucocutaneous Small Pelvis Necessitates Caesarean Section Duplication of 59 kb on Chromosome 2q35 Cutaneous Syndactyly of Toes (Usually 2nd and 3rd Toes) No Bony Syndactyly Cutaneous Syndactyly of Fingers - Usually 3rd and 4th Fingers Acrocephalosyndactyly Associated with Autoantibodies to GLRA1 Approximately 10% of Cases Are Paraneoplastic Onset in Adolescence or Young Adulthood Has Been Reported Onset Usually in 3rd or 4th Decade of Life Mutation in the Myotilin Gene Possibly Respiratory Difficulties due to Muscle Weakness Streaming of the Z Disk Seen on Electron Microscopy Muscle Fibers Contain Internal Nuclei Spheroid Bodies Are Composed of Fine Filamentous Myofibrillar Material Muscle Biopsy Shows 'Spheroid Bodies' in Type 1 Muscle Fibers EMG Shows Myopathic Features Muscle Pain and Cramping on Exertion Tremor Upper Limbs Pharyngeal Hypoplasia Downturned Oral Commissures S-Shaped Eyelids Unusual Eyebrow Pattern Mildly Dysmorphic Facies Weight <25th Percentile Narrow Shoulders Hoarse Voice due to Laryngeal Palsy Laryngeal Palsy Respiratory Stridor in Infancy Respiratory Insufficiency in Infancy Asymmetric Limb Length Weak Neck Flexion Laterally Placed Scapulae Rounded Shoulders due to Muscle Atrophy Atrophy of Type 1 and Type 2 Fibers Many Fibers with Internal Nuclei Marked Variability of Fiber Size Increased Endomysial Fibrosis Muscle Biopsy Shows Grouped Atrophy Scapular Muscles Partially Absent Scapular Muscle Atrophy Neurogenic Amyotrophy Reduced Axillary Hair and/or Pubic Hair Brittle Fingernails Axillary Apocrine Secretion Reduced Complete Cutaneous Syndactyly of 2nd and 3rd Toes Partial Third and Fourth Finger Syndactyly Bony Defect Normal Skull X-Rays Widely Spaced and/or Missing Secondary Teeth Coloboma of the Lower Eyelids Asymmetric Pupils Folded Superior Edge of Helix Small Tragus, Antitragus, and Lobule Raised Firm Hairless Posterior Scalp Nodules Congenital Denuded Areas of the Posterior Scalp Failure of Breast Enlargement and Lactation with Pregnancy Hypothelia - Athelia: Rudimentary or Absent Nipples Pyeloureteral Duplication Hypoplastic Kidneys