Results 51 to 60 of about 1,633 (195)
Clinical Features, ARIX and PHOX2B Nucleotide Changes in Three Families with Congenital Superior Oblique Muscle Palsy [PDF]
, 2008 We analyzed nucleotide changes in 3 genes, ARIX, PHOX2B, and KIF21A, in 6 patients of 3 families with congenital superior oblique muscle palsy. Three exons of ARIX, 3 exons of PHOX2B, and exons 8, 20, and 21 of KIF21A were amplified by polymerase chain ...
Imai, Sayuri +3 more
core +1 more source
Achondroplasia Associated with Bilateral Keratoconus
Case Reports in Ophthalmological Medicine, Volume 2012, Issue 1, 2012., 2012 We report a rare case of bilateral keratoconus in association with achondroplasia. A 26‐year‐old male, with a known case of achondroplasia, complained of bilateral gradual deterioration in vision for the past few years. Slit lamp biomicroscopy showed bilateral central corneal protrusion and stromal thinning at the apex consistent with keratoconus.
Ammar M. Al Mahmood +5 more
wiley +1 more source
Oman Journal of Ophthalmology, 2014 A 5-year-old girl presented with bilateral familial vertical Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia.
Malvika Gupta +2 more
doaj +1 more source
Genetic Aspects of Congenital and Idiopathic Scoliosis
Scientifica, Volume 2012, Issue 1, 2012., 2012 Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication ...
Philip F. Giampietro +3 more
wiley +1 more source
Simultaneous Presentation of Duane Retraction Syndrome and Coats' Disease: A Case Report [PDF]
Patient Safety and Quality Improvement Journal, 2014 Introduction: Duane retraction syndrome and Coats' disease are two relatively rare ocular conditions that occur in congenital and acquired forms in children.
Mohammad Sharifi
doaj
Mobius Syndrome with Duane Retraction: Abducens Nerve Aplasia and Facial Nerve Hypoplasia
Türk Oftalmoloji Dergisi, 2013 Mobius syndrome is a multisystem disorder and typically presents with 6th and 7th cranial nerves involvement. Neuroimaging studies have demonstrated crucial findings which may pave the way for understanding the basic pathophysiology of this rare entity.
Murat Küçükevcilioğlu +4 more
doaj +1 more source
The Role of Placental Homeobox Genes in Human Fetal Growth Restriction
Journal of Pregnancy, Volume 2011, Issue 1, 2011., 2011 Fetal growth restriction (FGR) is an adverse pregnancy outcome associated with significant perinatal and paediatric morbidity and mortality, and an increased risk of chronic disease later in adult life. One of the key causes of adverse pregnancy outcome is fetal growth restriction (FGR).
Padma Murthi +4 more
wiley +1 more source
Fourth Cranial Nerve Palsy and Brown Syndrome: Two Interrelated Congenital Cranial Dysinnervation Disorders? [PDF]
, 2018 Based on neuroimaging data showing absence of the trochlear nerve, congenital superior oblique palsy is now classified as a congenital cranial dysinnervation disorder.
Brodsky, Michael +1 more
core
Fertility apps, datafication and knowledge production in reproductive health
Sociology of Health &Illness, Volume 46, Issue 6, Page 1238-1255, July 2024.Abstract Despite being the target of much criticism, commercialised digital technologies have proliferated in reproductive health arenas. Fertility applications (apps) are now some of the most popular and ubiquitous digital health tracking technologies, with millions of downloads.
Alina Geampana
wiley +1 more source
Management of duane retraction syndrome
Journal of the Egyptian Ophthalmological Society, 2019 Background Duane retraction syndrome (DRS) is a congenital ocular motility disorder most commonly characterized by the inability of the eye to abduct, sometimes limitation of adduction, and globe retraction with palpebral fissure narrowing on adduction ...
Ahmed E.M Ramadan +3 more
doaj +1 more source