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4 Possible Causes for Mild Pontine Hypoplasia

  • Central Sleep Apnea

    The patient’s brain MRI revealed corpus callosum agenesis, pontine, and cerebellar hypoplasia. 7 To our knowledge, this is the first case of Vici syndrome featuring CSA.[] […] the reported facial abnormalities, hypotonia, and laryngomalacia can all predispose to OSA. 6 Despite these reported anomalies, only 1 case of Vici syndrome with OSA and mild[]

  • Horizontal Gaze Palsy with Progressive Scoliosis

    Brain MRI in Patient II-3 revealed pontine hypoplasia with an anterior midline cleft in the medulla and pons.1,15 CSF spaces were prominent anterior to the frontal lobes with[] […] had marked kyphoscoliosis (Figure 2F) with wedging and rotation of the vertebrae on x-ray, while Patients II-1 and II-2 had moderate scoliosis, and II-4 (the youngest) had mild[]

  • Congenital Cystic Eyeball

    […] cerebellar hypoplasia, pontine cleft, and/or asymmetric cerebral peduncles ( Fig 3a ) ( 30 ).[] Mutations in a number of neuron-specific α- and β-tubulin genes (eg, TUBA1A, TUBB2B ) are associated with a spectrum of posterior fossa abnormalities ranging from severe PCH to mild[]

  • Autosomal Dominant Congenital Nystagmus 3

    […] or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.[] Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with[]

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