Results 91 to 100 of about 11,635 (210)
A Case Report of Juvenile Myasthenia Gravis; Misdiagnosis and Considerations
Clinical Case Reports, Volume 14, Issue 7, July 2026.ABSTRACT Juvenile myasthenia gravis (JMG) is a rare autoimmune disease acquired in childhood, comprising 8%–15% of all myasthenia gravis cases depending on geographic and ethnic populations. Ocular myasthenia gravis presents as ptosis with extraocular movement restriction and is frequently misdiagnosed as third nerve palsy or congenital ptosis when ...
Elaheh Heidari, Amin Saeidinia
wiley +1 more source
Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source
, 2014 Introduction: To evaluate the cosmetic results and recurrence of unilateral frontalis sling surgery using a silicone rod compared with autogenous fascia lata in cases of simple congenital ptosis.
Purnima Rajkarnikar Sthapit +2 more
core +2 more sources
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Ocular motility and functional disorders in congenital ptosis
, 2000 AMAÇ: Konjenital pitoziste göz hareket bozuklukları, binoküler görme, şaşılık, anizometropi, ambliyopi gibi fonksiyonel bozukluklar ile diğer kapak anomalilerinin sıklığı araştırıldı.
Ayşe Yağcı +3 more
core
Syndrome de blépharophimosis: une forme particulière du ptosis congénital
The Pan African Medical Journal, 2015 Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales.
Hanan Handor +5 more
doaj +1 more source
Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review
JIMD Reports, Volume 67, Issue 4, July 2026.ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Alberte Aspaas Lundquist +4 more
wiley +1 more source
, 2019 The article titled, "Prevalence of refractive errors and corneal topographic changes in unilateral congenital ptosis vs the fellow eye: a clinical study", published in the International Journal of Research in Medical Sciences, Volume 7, Issue 2, 2019 ...
Vichare, Nitin V.
core +1 more source
A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress
Caspian Journal of Neurological Sciences, 2018 Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy.
Reza Shervin Badv +9 more
doaj