نتایج جستجو برای: microphthalmia
تعداد نتایج: 1639 فیلتر نتایج به سال:
INTRODUCTION Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in about 60% of affected males. To date, no gene has been identified for LMS in the microphthalmia s...
We performed a pars plicata lensectomy-vitrectomy on 32 patients (47 eyes) with congenital cataracts. Ocular abnormalities, mainly nystagmus, strabismus, and microphthalmia, were present in 29 patients. No complications occurred intraoperatively or postoperatively in 39 eyes with up to 8 1/2 years' follow-up (average 2.2 years). The pars plicata approach is a good surgical technique for the man...
Prenatal diagnosis of oral cystic lesions is rare but is reported more frequently. The diagnosis of sublingual cyst is important because of the potential for airway obstruction. A rare case of a foregut duplication cyst associated with unilateral sclerocorneal microphthalmia is reported. The differential diagnosis and the limitations of the prenatal ultrasound and the postnatal MRI are discussed.
A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are detected.
BACKGROUND Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked disorder with male lethality. HCCS encodes the holocytochrome c-type synthase involved in mitochondrial oxidative phosphorylation (OXPHOS) and programmed cell death. METHODS W...
BACKGROUND Treatment of pregnant mice with 2-chloro-2'-deoxyadenosine (2CdA) on Day 8 of gestation induces microphthalmia through a mechanism linked to the p53 tumor suppressor pathway. The present study defines the response of Day 8 mouse embryos through time with respect to pharmacologic intervention with PK11195, a ligand of the mitochondrial peripheral benzodiazepine receptor (Bzrp). METH...
Holoprosencephaly (HPE) is a rare congenital brain malformation associated with multiple midline facial defects. This anomaly is resulted from the failure of diverticulation and cleavage of primitive prosencephalon during weeks 4-8 of gestation. HPE is the most common forebrain developmental anomaly in human with the incidence rate of 0.49-1.2 cases per 10,000-20,000 term births. In this study,...
Abstract Warburg Micro Syndrome (WMS) is an autosomal recessive disorder characterized by intellectual disability, bilateral congenital cataracts, microphthalmia, and brain anomalies. We report 18-week fetus presenting with cataract narrow cavum septum pellucidum. Patient was counselled about the possible etiologies ranging from infectious to chromosomal single gene etiologies. Invasive testing...
Hyperbolic monopole motion is studied for well separated monopoles. It is shown that the motion of a hyperbolic monopole in the presence of one or more fixed monopoles is equivalent to geodesic motion on a particular submanifold of the full moduli space. The metric on this submanifold is found to be a generalisation of the multi-centre Taub-NUT metric introduced by LeBrun. The one centre case i...
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