A girl developed progressive weakness of bulbar and ocular muscles starting before the age of two years. Electromyography revealed a widespread subclinical myopathy. An intercostal muscle biopsy showed complex abnormalities including occasional neurofilamentous accumulations and honeycomb-like membranous material in terminal axons. Endplates were small and some secondary synaptic clefts were ab...

BACKGROUND AND PURPOSE Cranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of...

Synkinetic movement of the mandible with ocular movement is a rare anomaly. Carmichael and Critchley (1925) noticed that, when the eyes were rapidly turned horizontally first to one side and then to the other, there was protrusion of the mandible with deviation to the contralateral side. The movement may be associated with depression of the contralateral and raising of the ipsilateral eyebrow. ...

AIM To investigate early oculo-motor development in a population-based cohort of very preterm infants. METHODS Early oculo-motor development was prospectively studied by measuring smooth pursuit eye movements at 2 and 4 months corrected age in a population of very preterm infants born in Uppsala County 2004-2007. Eighty-one preterm infants were studied, and 32 healthy term infants constituted...

GOLDENHAR (1952) reviewed the literature relating to a syndrome consisting of epibulbar dermoids or lipodermoids, auricular appendices, and certain skeletal anomalies. Forty such cases or variants thereof have so far been recorded and Sugar (1966) added three more. We have recently seen an infant with ocular epibulbar dermoids, auricular appendices, congenital hydrocephalus, meningo-encephaloce...

This review describes the oculo-visual problems likely to be encountered in Parkinson's disease (PD) with special reference to three questions: (1) are there visual symptoms characteristic of the prodromal phase of PD, (2) is PD dementia associated with specific visual changes, and (3) can visual symptoms help in the differential diagnosis of the parkinsonian syndromes, viz. PD, progressive sup...

OBJECTIVE To provide an overview of the incidence, characteristics, and proposed etiologic mechanisms of facial paresis in patients with manifestations of hemifacial microsomia. DATA SOURCES PubMed database for English-language studies with no date restrictions. REVIEW METHODS A comprehensive literature review was performed identifying all studies that discussed incidence, characterization,...

OBJECTIVE To describe the clinical and genetic findings in a family with multiple cases of cavernous hemangiomas. DESIGN Investigational clinical and genetic study in which 3 generations of a family consisting of 12 members were screened with magnetic resonance brain imaging, dilated ophthalmoscopic examination, and cutaneous survey coupled with linkage analysis to determine affected individu...