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61 Possible Causes for Arachnodactyly, Postural Defect

  • Homocystinuria

    The girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity[] Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence[] She had neither arachnodactyly nor thromboembolic events.[]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[] […] arthrogryposis ) are common scoliosis variable other features include intrauterine death congenital respiratory distress short stature faciocranial dysmorphism ptosis low-set ears arachnodactyly[] Variable other features include intrauterine death, congenital respiratory distress, short stature, faciocranial dysmorphism, ptosis, low-set ears, arachnodactyly and cryptorchism[]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[] Apart from overgrowth, cutis laxa, arachnodactyly of hands and feet with contractures of the third to fifth finger, medial rotation of feet, spina bifida of the os sacrum,[] […] date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly[]

  • Vasovagal Syncope

    When there is a significant defect in any of these or subclinical defects in several of these systems, syncope may arise.[] She had no abnormal facial features, ocular abnormalities, excessive joint laxity, arachnodactyly, or abnormal arm span/height ratio.[] Baroreflex Dysfunction Theory: Several authors have advocated defective baroreflex function as a potential mechanism accounting for the development of postural NMS.[]

  • Acroosteolysis Dominant Type

    There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[] Arachnodactyly ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation dysmorphism Arachnoid cysts Arachnoiditis Arakawa's syndrome II Arbovirosis[] […] ataxia cataract aminoaciduria mental retardation Arachnodactyly mental retardation dysmorphism Arachnoid cysts Arachnoiditis Arakawa'sa syndrome II Arbovirosis Arc syndrome[]

  • Dysautonomia

    However, the following have been identified and may be involved: Single gene defects. Accumulation of toxins. Autoantibodies.[] Congenital cardiovascular malformations * Congenital cardiovascular shunt * Congenital central hypoventilation syndrome * Congenital chloride diarrhea * Congenital contractural arachnodactyly[] Ganglionic receptor antibodies (postural orthostatic tachycardia syndrome). Ganglioside autoantibodies (Guillain-Barré syndrome).[]

  • Thunderclap Headache

    The typical patient with SIH has a continuous diffuse headache that worsens with upright posture (sitting, standing) and improves with lying down.[] ., arachnodactyly, hyperextensible joints) should be sought.[] SPONTANEOUS INTRACRANIAL HYPOTENSION Spontaneous intracranial hypotension (SIH) is a condition of low CSF volume and/or pressure caused by CSF leaking from a dural defect,[]

  • X-Linked Osteoporosis with Fractures

    Postural unsteadiness is evident when patients begin walking.[] Systemic Features: Arachnodactyly and tall stature in some patients may suggest Marfan syndrome.[] Hepatomegaly and jaundice may also be an early diagnostic feature as bile acid metabolism is defective. Infant hypotonia is often seen.[]

  • Congenital Isolated ACTH Deficiency

    Isolated defects of aldosterone biosynthesis are rare, but partial defects are an aspect of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.[] Skeletal anomalies involve radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, camptodactyly, joint contractures, arachnodactyly, and clubfeet[] Symptoms attributable to aldosterone deficiency may provide the principal early diagnostic clues to hypoadrenalism; for example, postural hypotension may occur before anorexia[]

  • Hyperabduction Syndrome

    There are many causes of TOS, including Injury Anatomical defects Tumors that press on nerves Poor posture that causes nerve compression Pregnancy Repetitive arm and shoulder[] The examination of the extremities revealed nothing unusual and no evidence of arachnodactyly.[]

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