Abstract
We report a sporadic case of Lenz-Majewski syndrome (LMS) with newly recognized manifestations including facial palsy, cleft palate and hydrocephalus developing later in infancy. The clinical course of the patient and neuroimaging studies are described. Increased intracranial pressure was recognized and treated early with the aim of preventing neurological morbidity.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Bone and Bones / abnormalities
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Bone and Bones / diagnostic imaging
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Brain / pathology
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Child, Preschool
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Cleft Palate / diagnosis*
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Facial Paralysis / diagnosis*
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Female
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Humans
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Hydrocephalus / diagnosis*
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Magnetic Resonance Imaging
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Nervous System Diseases / diagnosis
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Nervous System Diseases / pathology
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Phenotype
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Skin / pathology
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Syndrome
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Tomography, X-Ray Computed