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1,824 Possible Causes for Cerebellar Hypoplasia, Mild to Moderate Muscle Weakness of the Face and Neck

  • Congenital Merosin-Positive Muscular Dystrophy

    The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months.[ncbi.nlm.nih.gov] Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[tiptiktak.com] hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form Mental retardation[mrineonatalbrain.com]

  • Hoyeraal-Hreidarsson Syndrome

    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] Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental[link.springer.com]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • Dysequilibrium Syndrome

    From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] cerebellar ataxia associated with cerebellar hypoplasia.[ncbi.nlm.nih.gov] An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification[ncbi.nlm.nih.gov]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • Lissencephaly

    A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org] Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH).[ncbi.nlm.nih.gov]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • Dyskeratosis Congenita

    hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation.[ncbi.nlm.nih.gov] hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable[afdc.asso.fr] The original descriptions of HH all included cerebellar hypoplasia [ 13 - 15 ], and we suggest that documentation of cerebellar hypoplasia ( Figure 2 ) is required to make[ncbi.nlm.nih.gov]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • 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: Mild to Moderate Muscle Weakness of the Face and Neck
  • Aprosencephaly and Cerebellar Dysgenesis

    This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] hypoplasia.[link.springer.com] Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations[familydiagnosis.com]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • PHACE Syndrome

    We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma.[ncbi.nlm.nih.gov] The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%).[ncbi.nlm.nih.gov] ( arrowhead ), and subtle right cerebellar hypoplasia.[ajnr.org]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[rarediseases.info.nih.gov]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck
  • Dandy-Walker Syndrome

    hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients.[ncbi.nlm.nih.gov] Magnetic resonance imaging showing Dandy-Walker malformation of the cerebellum, a large cerebrospinal fluid collection in the posterior fossa (A), marked cerebellar hypoplasia[academic.oup.com]

    Missing: Mild to Moderate Muscle Weakness of the Face and Neck

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