نتایج جستجو برای: congenital ptosis
تعداد نتایج: 125182 فیلتر نتایج به سال:
purpose : to identify any factors that may predict successful levator resection in blepharoptosis correction methods : the hospital records of 52 consecutive patients undergoing anterior levator resection for unilateral congenital blepharoptosis were reviewed. successful result was defined a lid level within 1 mm of the fellow eye 1 year after surgery. we studied the effect of levator function,...
The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and...
We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndr...
The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment an...
BACKGROUND We examined the effect of surgical repair on the pattern of refractive errors in Korean patients with congenital blepharoptosis. METHODS We reviewed the clinical records of 54 patients with congenital blepharoptosis who attended our hospital from 2006 to 2012 and underwent a detailed refractive examination before and after ptosis repair surgery. Among them, 21 of the patients whose...
AIMS To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine receptor channel (RYR1). METHODS Seven unrelated patients shared a predominant axial and proximal weakness of varying severity, with onset during the neonatal period, a...
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