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69 Possible Causes for Dolichocephaly, 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.[…][ncbi.nlm.nih.gov]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Cardiac defects, diaphragmatic hernia, omphalocele. Eye malformations (congenital cataracts and corneal ulceration).[fetalultrasound.com] 0100543 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Dolichocephaly[rarediseases.info.nih.gov] Postural and limb deformities are present in the variant forms. Intrauterine growth restriction (IUGR). Short umbilical cord.[fetalultrasound.com]

  • Hypodontia

    […] instability Persistent open anterior fontanelle Abnormality of the vertebral column Osteolytic defects of the distal phalanges of the hand Spondylolysis Delayed eruption[mendelian.co] Sotos syndrome, or cerebral gigantism, is a rare genetic condition characterized by tall stature, gigantism, dolichocephaly, advanced bone age and learning disability.[ncbi.nlm.nih.gov] […] finger Elbow flexion contracture Rhizomelia Aortic valve stenosis Lumbar hyperlordosis Hypotelorism Tetraplegia Platyspondyly Ranula Respiratory insufficiency Narrow chest Postural[mendelian.co]

  • Holoprosencephaly

    […] instability Pachygyria Abnormal form of the vertebral bodies Infantile muscular hypotonia Atrioventricular canal defect Abnormal retinal morphology Nuclear cataract Decreased[mendelian.co] […] the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly[mendelian.co] […] infancy Spasticity Short thumb Hammertoe Azoospermia Abnormal palate morphology Ectropion Aplasia/Hypoplasia of the eyebrow Leukodystrophy Amblyopia Short toe Pancytopenia Postural[mendelian.co]

  • Tibia Varum

    Causes of Genu Varum Among children: Birth defect Postural abnormality Developmental defect Rickets Hormonal disorders Among aged people: Degenerative disorders like osteoarthritis[blog.portea.com] Hip dysplasia - Upington disease feet ( Club foot , Flat feet , Pes cavus ) systemic dislocations Larsen syndrome head , face , spine and chest : skull , face and jaw ( Dolichocephaly[wikidoc.org]

  • Teebi-Shaltout Syndrome

    Delayed eruption of teeth Preauricular skin tag Facial cleft Cephalocele Multiple lipomas Diabetes insipidus Lipoma Flat occiput Hemangioma Long eyelashes Atrial septal defect[mendelian.co] […] camptodactyly ulnar deviation of hands single palmar crease abnormal palmar creases syndactyly, 2-3 Head And Neck Head: scaphocephaly microcephaly (rare) abnormal head shape dolichocephaly[malacards.org] […] voice Tetraparesis Smooth philtrum Limited wrist movement Respiratory insufficiency due to muscle weakness Hypoplasia of the nasal bone Myopathy Small for gestational age Dolichocephaly[mendelian.co]

  • 10q22.3q23.3 Microdeletion Syndrome

    At birth, she had sinistra convex position, probably due to the intrauterine posture.[link.springer.com] […] philtrum Iris coloboma Ataxia Facial hypotonia Visual impairment Facial asymmetry Respiratory insufficiency Encephalopathy Myoclonus High forehead Telecanthus Anxiety Apnea Dolichocephaly[mendelian.co] X-ray of thorax revealed cardiomegaly, confirmed by echocardiography, which also revealed cardiac myopathy with atrial septal defect.[link.springer.com]

  • Acroosteolysis Dominant Type

    There was no overt autonomic dysfunction; sweating and tearing were within normal range, and postural hypotension was not present.[genome.jp] […] invagination / cranio-spinal malformation / platybasia - Bone pain - Broad cheeks / cherub-like / cherubin face - Cleft lip and palate - Coarse face - Dental malocclusion - Dolichocephaly[csbg.cnb.csic.es] Arnold-Chiari malformation 0002308 Arthralgia Joint pain 0002829 Biconcave vertebral bodies 0004586 Bone pain 0002653 Coarse facial features Coarse facial appearance 0000280 Dolichocephaly[rarediseases.info.nih.gov]

  • Acrocallosal Syndrome

    Typically, the midline of the brain is defective or not visible, and an abnormal fluid space can be seen in the midline.[redorbit.com] Craniofacial abnormalities: Macrocephaly with dolichocephaly, frontal bossing, hypertelorism, down slanting palpebral fissure, posteriorly angulated malformed ears, short[medigoo.com] The neck is bulging, and the movements and posture of the legs may be abnormal, with club foot and medially deviating double big toes (2, 3).[redorbit.com]

  • Cutis Laxa

    Dystonic posturing was discriminatory for PYCR1 and ALDH18A1 defects. Metabolic markers of mitochondrial dysfunction were found in one patient with PYCR1 mutations.[ncbi.nlm.nih.gov] . , 1986) and dolichocephaly (Imaizumi et al. , 1994) can occur.[scielo.br] Epilepsy was most common in ATP6V0A2 defects. Corpus callosum dysgenesis was associated with PYCR1 and ALDH18A1 mutations.[ncbi.nlm.nih.gov]

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