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70% due to De Novo Maternal Deletion of 15q11.2-q13 Sensitivity to Heat Increased Onset between 6 and 12 Months of Age Excessive Drooling Abnormal Food-Related Behaviors Excessive Chewing or Mouthing Behaviors Feeding Difficulties in Neonatal Period Attraction to and Fascination with Water and Crinkly Items Easily Excitable Mild Cortical Atrophy (CT or MRI) Need for Sleep Decreased Abnormal Sleep-Wake Cycles Characteristic Arm Position with Wrist and Elbow Flexion Clumsiness - Unsteadiness Ataxia with Jerky Arm Movements Low Level of C4 and C2 Patchy Alopecia Sparse or Absent Eyelashes Rare Arterial Occlusion Type 2 - Normal Antithrombin III Level but Decreased Activity Z Allele Almost Exclusively in Caucasians Emphysema Especially at Bases Alveolar Wall Destruction Narrow Airways Increased Risk of Hepatocellular Carcinoma Infantile Liver Abnormalities in < 20% with Deficiency Hepatic Intracellular Inclusions in ZZ Homozygotes Mutation in the PI Gene Mild Fat Malabsorption Particularly High Incidence in Identical Twins Pterygia Dimples Overlying Contractures Severe Metacarpal or Phalangeal Joint Contractures Flexion of Wrist and Hand ("Policeman Tip Position") Decreased Bone Growth in Affected Limbs Extension of Elbows Abducted Hips Adducted Hips Stiff, Straight Spine Hypoplastic Deltoids Shoulder Muscle Mass Decreased Non-Duodenal Intestinal Atresia Long Bone Fractures during Delivery Cord Wrapping of Limb Dimples Over Large Joints Absent Phalangeal Creases Forearm Rotation Limited Muscle Mass Decreased - Especially in Lower Limbs Macular Retinal Folds Hunched Anteverted Shoulders Flat, Irregular Femoral Epiphyses Platyspondyly with Anterior Wedging Membranous Vitreous Phenotype Occasional Cataracts Occasional Conductive Hearing Loss Acetazolamide Mitigates Episodic Attacks Onset May Occur in Adulthood Ocular Abnormalities Often Persist between Attacks Suppression of Vestibuloocular Reflex Ictal and Interictal Diplopia EEG Paroxysmal Activity Interictal Ataxia May Occur Later in Disease Course Possibly Interictal Dystonia Later in Disease course Interictal Downbeat Nystagmus Episodes Last from Several Hours to Days Episodic Unsteadiness Stillbirth or Immediate Neonatal Death Well-Ossified Distal Phalanges Bowed Short Tibiae Short Femora with Proximal Clubbing and Distal Tapering Short, Bowed Radius Short Humeri with Proximal Clubbing and Distal Tapering Sagittal Clefts Abnormal Segmentation Edematous Eyelids Narrow Thoracic Cage Hitchhiker Halluces Tombstone-Shaped Proximal Phalanges Club-Shaped Femora Club-Shaped Humeri with Early Proximal Epiphyseal Ossification Vertical Block-Like Ischia Rounded Iliac Bones with Shortened Sacrosciatic Notches Cervical Spine Segmentation Defects Tall Lumbar Vertebrae Prominent Schwalbe Line Mild Proptosis Wide Clinical Variability Abnormal Electrooculogram EOG Impaired Thermal Sense Sparing of the Inferior Olives Mild Loss of Neurons in the Cerebellum Fourth Ventricle Mildly Enlarged Autonomic Dysfunction May Occur Dystonia (<20%) Dementia (<20%) Facial-Lingual Fasciculation Lateral Displacement of the Inner Canthi Two Types - One with Premature Ovarian Failure and One without Mutation in the Forkhead Transcription Factor FOXL2 Gene Scant Pubic and Axillary Hair