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82 Possible Causes for Agenesis of Corpus Callosum, Pediatric Disorder, Proximally Placed Thumb

  • Aicardi's Syndrome

    ., Shevell, M.I. (1998) Infantile epileptic encephalopathy (Ohtahara syndrome) and migrational disorder.[scindeks.ceon.rs] Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable[ncbi.nlm.nih.gov] Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum.[ncbi.nlm.nih.gov]

  • Congenital Iris Coloboma

    Throughout the book, the pathology, examination, anesthesia, surgical treatment and nursing care of pediatric lens disorders are discussed in detail.[books.google.de] MAPGROUP 3 6011000124106 MAPTARGET 6011000124106 MAPADVICE IF AGENESIS OF CORPUS CALLOSUM, INTELLECTUAL DISABILITY, COLOBOMA, MICROGNATHIA SYNDROME CHOOSE M26.09 MAP OF SOURCE[bioportal.bioontology.org] , short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1 st –2 nd finger syndactyly, distal phalanges of fingers hypoplasia, camptodactyly, delayed[ojrd.biomedcentral.com]

  • Arthrogryposis Multiplex Congenita

    Most recently, through her personal contracting agency she has been supplying consultative PT services to adults with pediatric disorders. Dr.[amcsupport.org] Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem[cags.org.ae] placed thumbs HPO:9623 – 2 1 – – 1 3/5 Camptodactyly HPO:1215 – 5 2 – – 1 3/5 Ulnar deviation of the finger HPO:9465 – 3 1 – – 1 3/5 Proximally placed toes HPO:1780 – 4 1[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    […] of corpus callosum, cerebellar vermis dysgenesis, cataracts, cleft palate, many different forms of congenital heart defect, pyloric stenosis and/or Hirschsprung dysganglionosis[ncbi.nlm.nih.gov] Parents completed several questionnaires (Intake Demographic Form; Pediatric Sleep Questionnaire; Pediatric Daytime Sleepiness Scale).[ncbi.nlm.nih.gov] placed thumbs.[orpha.net]

  • Renpenning Syndrome

    […] of the corpus callosum, lacunar chorioretinopathy, costovertebral anomalies, seizures in females _____, Xp22 Allan–Herndon syndrome Generalized muscle hypoplasia, childhood[pediatrics.aappublications.org] One typical immune reaction in infants and children is PANDAS, or Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infection, another disorder[wikivisually.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Thrombocytopenia-Absent Radius Syndrome

    Murray Thrombocytopenia in the newborn Curr Opin Pediatr, 15 (2003), pp. 17-23 [20.] L.V. Black, A.[apcontinuada.com] Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney.[reference.medscape.com] Both thumbs were present but were either hypoplastic or proximally placed.[jmg.bmj.com]

  • Mowat-Wilson Syndrome

    […] of the corpus callosum.[symptoma.com] International Foundation for Functional Gastrointestinal Disorders (IFFGD) - Pediatric PO Box 170864 Milwaukee WI 53217-8076 Phone: 888-964-2001 (toll-free); 414-964-1799[ncbi.nlm.nih.gov] […] that did not require surgery, ulnar deviation of the hands, proximally placed thumbs, delayed bone age, significant scoliosis, and camptodactyly [ Mowat et al 2003 , Adam[ncbi.nlm.nih.gov]

  • SHORT Syndrome

    Pediatric disorders of sex development. In: Melmed S, Polonsky KS, Larsen PR, Kronenberg HM, eds. Williams Textbook of Endocrinology. 13th ed.[medlineplus.gov] Patient 12 had an MRI scan, which showed cerebral ventriculomegaly, partial agenesis corpus callosum and loss of white matter in the periventricular regions.[nature.com] Intrauterine growth retardation, prominent philtrum, proximally placed thumbs, oligodactyly, and phocomelia are more frequent in de lange syndrome, while craniosynostosis,[icd10data.com]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    […] of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.[gad-bfc.org] […] of the corpus callosum.[nature.com] […] of corpus callosum Micromelia Ambiguous genitalia Sandal gap Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Adrenal hypoplasia Barrel-shaped chest Depressed[mendelian.co]

  • Syndromic Microphthalmia Type 10

    Guoli Sun 8 , Jennifer J Johnston 9 , Leslie G Biesecker 9 , Riki Kawaguchi 10 , Hui Sun 10 , Virginia Kimonis 1 , Taosheng Huang 1 , 2 , 8 , 11 , 12 , 13 1 Department of Pediatrics[jmg.bmj.com] […] of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.[malacards.org] placed thumbs, short distal phalanges - - - 1B (sister of 1A) 16q11.1q12.1 550 band karyotype ND Proximally placed thumbs, short distal phalanges - - 2 16q11.2q21 CGH/FISH[bmcmedgenet.biomedcentral.com]

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