Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]
, 2010 Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F +23 more
core +2 more sources
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly [PDF]
Nature Communications, 2019 Najim Lahrouchi +2 more
exaly +2 more sources
Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta [PDF]
, 2019 Osteogenesis imperfecta (OI) is a heritable connective tissue disorder, mainly characterized by bone fragility and low bone mass. Defects in the type I procollagen-encoding genes account for the majority of OI, but increasingly more rare autosomal ...
Elcioglu, Nursel +8 more
core +1 more source
Acquired ptosis associated with oculomotor and contralateral facial nerve synkinesis: the first reported case [PDF]
, 2017 Evidence of oculomotor nerve (ON) synkinesis is a common occurrence following both acquired and congenital III nerve palsy. It is generally accepted that aberrant regeneration is the likely aetiology of synkinesis in acquired III nerve palsy, following ...
Conversi, Andrea +7 more
core +2 more sources
Susceptibility loci CNVs with incomplete penetrance accurate diagnosis with uncertain prognosis [PDF]
, 2019 Chromosomal microarray analysis (CMA) is the first-tier test for developmental delay, autism spectrum disorders, and congenital abnormalities in postnatal diagnosis and for ultrasound abnormalities in prenatal diagnosis.
Correia, Hildeberto +2 more
core +1 more source
Refractive Errors in Congenital Ptosis-A Clinical Study
MRIMS Journal of Health Sciences, 2016 Background: Ptosis is a common public health problem worldwide. It is the lowering of eye lid or prolapse of an organ. In all major ocular surgeries the involvement of eye lid is seen. Etiology of ptosis is multifactorial. Objective: The main objectives
P V Nanda Kumar Reddy, D Kamala
doaj +1 more source
AChR deficiency due to ε-subunit mutations: Two common mutations in the Netherlands [PDF]
, 2009 Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of hereditary disorders affecting neuromuscular transmission. We have identified mutations within the acetylcholine receptor (AChR) ε-subunit gene underlying congenital ...
Baets, M.H. (Marc) de +9 more
core +1 more source
Journal of Ophthalmology, 2020 Background. To evaluate the differences in the corneal higher-order aberrations (HOAs) and optical quality of the ptosis eyes compared with the normal fellow eyes in the unilateral congenital ptosis patients. Methods.
Jianqin Shen +4 more
doaj +1 more source
Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 [PDF]
, 2012 We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and ...
Alessandra Tessa +8 more
core +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source