PURPOSE To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus. METHODS Both parents and all 12 children underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affy...

A 13-year-old boy presented with emesis, blurred vision, headache, and vertigo. He showed signs of a dorsal midbrain (Parinaud) syndrome (supranuclear upgaze palsy, convergence retraction nystagmus, Collier sign [lid retraction], pupillary light-near-dissociation)1 and eccentric displacement of the pupils (corectopia; figure 1 and figure e-1 on the Neurology Web site at www.neurology.org). Fund...

We report a case of Volkmann's-like syndrome occurred after an extravasation of 300 mg of cordarone administrated for a cardiac arrest.The day following the extravasation, an extensive necrosis of the skin and soft tissues occurred. The patient progressively developed a retraction of the muscles of her forearm. To the best of our knowledge this is first the reported case of an acute necrosis of...

purpose: to report a case of cloverleaf skull syndrome with cleft palate. results: we report a 20-day-old boy with cloverleaf-shaped skull deformity, very constricted cranium and prominent temporal bones associated with severe proptosis, maked lid retraction, conjunctival chemosis, exposure keratitis, corneal opacity and cleft palate. ct-scan dislosed fusion of the coronal, sagittal and lambdoi...