Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up part of a multisystem disorder. Both parents, offspring of two full siblings, had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father alone had aortic stenosis and inguinal hernia. The six offspring, aged from 13 to 28 years, were followed up for up to 8 years. While one of them was virtually normal, and one had only minor abnormalities, four siblings displayed clinical signs of progressive aortic stenosis. Of the two eldest siblings who eventually died, necropsy in one showed a discrete subaortic stenosis, which was hemodynamically proven in one and surgically corrected in another sibling. Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DSS in four, OLD, inguinal hernia and congested episcleral veins in three, kyphoscoliosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the deceased female. The prevalence of some of these traits in roughly three-quarters of the sibship was consistent with an underlying single gene abnormality in affected heterozygous parents. We proposed that this constitutes a new syndrome.
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PMID:Discrete subaortic stenosis as part of a short stature syndrome. 653 46

Vocal cords palsy is a rare complication in the course of systemic lupus erythematosus (SLE). A 38-year-old female patient with a history of SLE presented with chronic voice hoarseness resistant to standard treatment. High levels of antinuclear antibodies including dsDNA, Ro52, SSA, SSB were confirmed, while antiphospholipid antibodies were absent. While other causes of voice hoarseness were excluded, bilateral vocal cords palsy was diagnosed. Moreover, the patient revealed features of obvious Hashimoto thyroiditis with high levels of antithyroid antibodies and also developed a convergent squint as a result of fatigability of oculomotor muscles. Electrophysiology test of peripheral nerves detected myasthenic type nerve-muscle conduction impairment which was suspected as the cause of reported symptoms. Possible reasons for emerging signs and symptoms of neuropsychiatric systemic lupus erythematosus were discussed as well as the presence of vasculitis, neuropathy, significance of thyroiditis and coexistence of myasthenia. All that reasons of similar autoimmune background were also raised in this case report.
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PMID:Vocal cords palsy in systemic lupus erythematosus patient: diagnostic and therapeutic difficulties. 2326 6