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2,320 Possible Causes for Cerebellar Hypoplasia, Non-Communicating Isolated Syringomyelia, Oral Leukoplakia

Did you mean: Cerebellar Hypoplasia, Non-Communicating, Isolated Syringomyelia, Oral Leukoplakia

  • Dyskeratosis Congenita

    The classic mucocutaneous triad of clinical features comprises reticulated skin pigmentation, nail dysplasia, and oral leukoplakia.[ncbi.nlm.nih.gov] hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] We report a sporadic case of DKC presenting with poikiloderma, nail dystrophy and oral leukoplakia.[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Hoyeraal-Hreidarsson Syndrome

    leukoplakia.[ncbi.nlm.nih.gov] We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay.[ncbi.nlm.nih.gov] Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Arnold-Chiari Malformation Type 1

    hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation[radiopaedia.org] Type IV is a form a cerebellar hypoplasia.[hon.ch] […] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be[radiopaedia.org]

    Missing: Oral Leukoplakia
  • Autosomal Dominant Dyskeratosis Congenita 2

    […] dys·ker·a·to·sis con·gen·'i·ta [MIM*305000] nail dystrophy, oral leukoplakia, and reticular pigmentation of the skin, testicular atrophy with anemia progressing most commonly[medical-dictionary.thefreedictionary.com] hypoplasia.[disorders.eyes.arizona.edu] hypoplasia and growth retardation Diagrams / tables Images hosted on other servers : Defects in cellular proliferation and differentiation that give rise to dyskeratosis[pathologyoutlines.com]

    Missing: Non-Communicating Isolated Syringomyelia
  • Congenital Aplastic Anemia

    Her weight was 27 kg (below 3 rd percentile), height was 137 cm (below 3 rd percentile), and had dystrophic nails, alopecia, and oral leukoplakia [Figure 1] a and [Figure[ijpd.in] […] growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.[wikidata.org] Antenatal diagnosis Intrauterine growth failure and cerebellar hypoplasia can be detected by prenatal ultrasounds.[rarediseases.info.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Revesz Syndrome

    Thus the former exhibit features that are typical of DC, such as abnormal nail formation, skin hyperpigmentation, and oral leukoplakia.[symptoma.com] Revesz syndrome, a variant disorder, is characterized by retinopathy, aplastic anemia, nail dystrophy, and cerebellar hypoplasia.[ncbi.nlm.nih.gov] We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found[ncbi.nlm.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Dyskeratosis Congenita Type Scoggins

    The syndrome is a rare, bone marrow failure syndrome characterized by three features: reticulated skin hyperpigmentation, nail dystrophy, and oral leukoplakia.[healthcaremagic.com] hypoplasia.[disorders.eyes.arizona.edu] leukoplakia Oral white patch 0002745 Osteoporosis 0000939 Premature graying of hair Early graying Premature graying Premature greying Premature hair graying [ more ] 0002216[rarediseases.info.nih.gov]

    Missing: Non-Communicating Isolated Syringomyelia
  • Myelocerebellar Disorder

    leukoplakia.4, 5, 6 Hoyeraal-Hreidarsson syndrome (HHS) is a?[hiv-proteases.com] hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with[se-atlas.de] leukoplakia Oral ulcer Blepharitis Premature loss of teeth Epiphora Generalized hyperpigmentation Abnormality of coagulation Acromicria Need help with a diagnosis?[mendelian.co]

    Missing: Non-Communicating Isolated Syringomyelia
  • Postaxial Oligodactyly, Tetramelic

    Oral facial digital syndrome type 3[?] Oral facial digital syndrome type 4[?] Oral facial digital syndrome[?] Oral facial dyskinesia[?] Oral leukoplakia[?][encyclopedia.kids.net.au] […] pure * Cerebellar degeneration * Cerebellar degeneration, subacute * Cerebellar hypoplasia * Cerebellar hypoplasia tapetoretinal degeneration * Cerebellar hypoplasia with[medicalgeek.com] […] cancer Oral leukoplakia Oral lichen planus Oral pharyngeal disorders Oral squamous cell carcinoma Oral submucous fibrosis Oral-facial cleft Orbital lymphangioma Orbital lymphoma[personalizedcause.com]

    Missing: Non-Communicating Isolated Syringomyelia
  • Cerebellotrigeminal Dermal Dysplasia

    Oral leukoplakia of tongue and buccal mucosa occur in both pachyonychia congenital type 1 and dyskeratosis congenita. It is premalignant in which condition?[quizlet.com] Neuroimaging of patients with GLHS shows rhombencephalosynapsis is universally present, with ventriculomegaly/hydrocephalus and cerebellar hypoplasia being common.[ncbi.nlm.nih.gov] Poretti A, Limperopoulos C, Roulet-Perez E et al (2010) Outcome of severe unilateral cerebellar hypoplasia.[doi.org]

    Missing: Non-Communicating Isolated Syringomyelia

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