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72 Possible Causes for Angiomatosis, Postural Defect

  • Homocystinuria

    Classical homocystinuria (HCU) is a monogenic disease caused by the deficient activity of cystathionine β-synthase (CβS). The objective of this study was to identify the CBS mutations in Brazilian patients with HCU. gDNA samples were obtained for 35 patients (30 families) with biochemically confirmed diagnosis of HCU.[…][]

  • Cerebro-Oculo-Facio-Skeletal Syndrome 1

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[] Neurological Complications Alexander Disease Alpers’ Disease ALS (Amyotrophic Lateral Sclerosis) Alternating Hemiplegia Alzheimer’s Disease Anencephaly Aneurysm Angelman Syndrome Angiomatosis[] Complications, Alexander Disease, Alpers’ Disease, Alternating Hemiplegia, Alzheimer’s Disease, Amyotrophic Lateral Sclerosis (ALS), Anencephaly, Aneurysm, Angelman Syndrome, Angiomatosis[]

  • Cerebrooculofacioskeletal Syndrome Type 4

    It consists of: Treatment of specific signs and symptoms: Physiotherapy to loosen joints, correct posture defects, and keep muscles supple Medication to relax spastic muscles[] National Institute of Neurological Disorders and Stroke Sturge-Weber Syndrome Information Page Sturge-Weber syndrome (also called "encephalotrigeminal angiomatosis") is a[] […] callosum, and intracranial lipomas, but also with additional anomalies including lipomas on the face, alopecia areata, coloboma of iris, chorioretinitis, leptomeningeal angiomatosis[]

  • Autosomal Recessive Spastic Paraplegia Type 32

    SPG51 is a non-progressive disorder of movement and/or posture resulting from defects in the developing central nervous system.[] […] hereditario tipo I Alzheimer hereditario tipo III Alzheimer hereditario tipo IV Amaurosis congénita de Leber Analgesia femenina Anemia hemolítica Aneuploidías Anencefalia Angiomatosis[] Affected individuals manifest motor and posture impairments often associated with epilepsy and disturbances of cognition, behavior, sensation, and communication.[]

  • Occipital Encephalocele

    Lack of muscle coordination is due to a defect in the cerebellum that lies beneath the back section of the cerebrum.[] Madelung Deformity and Dyschondrosteosis LériWeill Syndrome 173 Phakomatoses Neurocutaneous Syndromes 175 61 Neurofibromatosis 176 62 SturgeWeber Syndrome Encephalotrigeminal Angiomatosis[] Ataxia In this condition, affected patients may experience poor coordination and unsteadiness due to the failure of the brain to regulate the posture of the body as well as[]

  • Holoprosencephaly

    […] instability Pachygyria Abnormal form of the vertebral bodies Infantile muscular hypotonia Atrioventricular canal defect Abnormal retinal morphology Nuclear cataract Decreased[] Other benign growth lesions, including meningeal angiomatosis, frontal lipoma, tongue cyst, epignathus and gum nodules, have been observed in about 20% of the cases.[] […] infancy Spasticity Short thumb Hammertoe Azoospermia Abnormal palate morphology Ectropion Aplasia/Hypoplasia of the eyebrow Leukodystrophy Amblyopia Short toe Pancytopenia Postural[]

  • Neurological Disorder

    The patient was somnolent and had severe limb, gait, and postural ataxia (he was unable to walk or sit up in bed without assistance) and moderate dysarthria.[] […] muscular dystrophy Dysarthria Dysautonomia Dyscalculia Dysgraphia Dyskinesia Dyslexia Dystonia E [ edit ] Empty sella syndrome Encephalitis Encephalocele Encephalotrigeminal angiomatosis[] No sensory or motor disturbances (including oculomotor paralysis) and no memory defects were found. Nystagmus (gaze-evoked and direction-changing) subsequently appeared.[]

  • Optic Disc Drusen

    Key Features Optic Nerve Head Drusen True Papilledema Visual Symptoms Transient vision loss (TVL) & Visual field defects (VFDs) can occur TVL, double vision, and VFDs Headaches[] Other associations include abetalipoproteinemia, acromegaly, diabetes mellitus, facial angiomatosis, hemochromatosis, hemolytic anemia, hereditary spherocytosis, hypercalcinosis[] When lesion are multiple, the condition is known as multifocal angiomatosis.[]

  • Polycythemia Neonatorum

    Neurological system: symmetry of movement, muscle tone, posture, strength, grasp reflex, suck reflex, Moro reflex, response to being handled.[] , cystic kidneys, polycythaemia , and so forth. de Diese Rückfälle werden eingehend beschrieben unter besonderer Berücksichtigung der Beziehung zu Heredität, Gravidität, Angiomatosis[] Extremities and Skeletal System Spine Scoliosis, kyphosis, lordosis, spinal defects, meningomyelocoeles.[]

  • Occipital Lobe Tumor

    […] instability loss of ability to make postural adjustments in response to perturbations, i.e., defect in righting reflex; common in Parkinson disease postural tremor tremor[] Sturge-Weber angiomatosis.[] […] motion needed dysphagia difficulty in swallowing dysphonia voice disorder, often related to weakness of laryngeal muscles, in which sound production is impaired dysraphism defective[]

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