Expanding the phenotypic spectrum of Lenz–Majewski syndrome: facial palsy, cleft palate and hydrocephalus

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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.

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