• Miller's contributions include descriptions of ocular findings in Möbius syndrome, Parry-Romberg syndrome, and fetal alcohol syndrome. (wikipedia.org)
  • She described associations of Duane syndrome with craniofacial abnormalities, as well as dyslexia, thalidomide toxicity, and other first-trimester anomalies. (wikipedia.org)
  • Fetal Alcohol Syndrome (FAS) is an irreversible congenital condition that is a result of maternal alcohol use during pregnancy [1] . (aao.org)
  • FAS is a syndrome that falls under a larger group of conditions known as Fetal Alcohol Spectrum Disorder (FASD). (aao.org)
  • Most alarmingly, and distinct from other flaviviruses, Zika virus infection during pregnancy can result in a spectrum of developmental abnormalities (congenital Zika syndrome) ( 5 ), which can include ocular damage, microcephaly, and fetal death ( 6 ). (cdc.gov)
  • These included articles on children with diagnosed fetal alcohol syndrome/FASD (n=31), PAE (n=3) and FASD or PAE without FASD (n=2). (reviewofoptometry.com)
  • Recommendations for follow-up of infants with laboratory evidence of congenital Zika virus infection depend on whether abnormalities consistent with congenital Zika syndrome are present. (cdc.gov)
  • Although their part in kindly teratogenesis remains to be proven, electrophilic epoxy metabolites and reactive quinones formed during phenytoin metabolism are realizable contributors to the craniofacial abnormalities seen in infants following in utero direction to this anticonvulsant pharmaceutical (a shape termed foetal hydantoin syndrome, FHS). (wgc2010.sk)
  • Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. (nih.gov)
  • PAX6-related aniridia occurs either as an isolated ocular abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. (nih.gov)
  • Collectively, our results indicate that alcohol-induced modifications to chromatin structure persist beyond the window of exposure, and likely contribute to the development of fetal alcohol syndrome-associated congenital abnormalities. (biomedcentral.com)
  • One of the major features of Alagille syndrome is liver damage caused by abnormalities in the bile ducts. (medlineplus.gov)
  • Down Syndrome (Trisomy 21) Down syndrome is an abnormality of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. (msdmanuals.com)
  • A study recently identified the range and prevalence of reported eye abnormalities among children with prenatal alcohol exposure (PAE) and/or fetal alcohol spectrum disorders (FASD), highlighting the importance of examining children with PAE as well as those suspected of or diagnosed with FASD to ensure early identification and proper management of ocular side effects. (reviewofoptometry.com)
  • Eye abnormalities in children with fetal alcohol spectrum disorders: a systematic review. (reviewofoptometry.com)
  • Long-term visual disorders have been described, with no possible improvement and even a worsening of some of the ocular anomalies previously observed. (bvsalud.org)
  • The major emphasis of the laboratory is the investigation of the role of agrin in fetal alcohol spectrum disorders (FASD) and how agrin function via Fgfs and Shh is a target of embryonal ethanol and cannabinoid exposure in zebrafish. (nccu.edu)
  • Fetal alcohol spectrum disorders (FASD) due to maternal alcohol abuse results in a series of developmental abnormalities including cranial facial dysmorphology, ocular anomalies, congenital heart defects, microcephaly and intellectual disabilities. (biomedcentral.com)
  • Fetal alcohol spectrum disorders (FASD) results from maternal alcohol abuse and is featured by abnormal facial morphology, ocular anomalies, congenital heart defects, microcephaly and intellectual disability [ 1 ]. (biomedcentral.com)
  • Clinically based practice will include screening for congenital cardiac defects, developmental dysplasia of the hip, some ocular disorders (including congenital cataract), and undescended testes as well as a general physical examination. (cumbria.ac.uk)
  • Neurocutaneous disorders are a diverse group of congenital disorders that encompass abnormalities of neuroectodermal and, sometimes, mesodermal development and often involve the skin, eye, and central nervous system. (uspharmacist.com)
  • N eurocutaneous disorders are a heterogeneous group of genetic disorders characterized by abnormalities of the cutaneous and nervous systems. (uspharmacist.com)
  • Work from a number of independent research groups have demonstrated that ethanol (EtOH) has the capacity to alter chromatin structure, which suggests that epigenetic mechanisms may be relevant to the genesis of birth defects associated with fetal alcohol spectrum disorders (FASDs) [ 2 - 4 ]. (biomedcentral.com)
  • A number of genetic, metabolic, and neurologic disorders are associated with recognizable scalp hair abnormalities. (medscape.com)
  • [ 1 3 ] A number of autosomal dominant, autosomal recessive, and X-linked single gene disorders are characterized by hair abnormalities. (medscape.com)
  • Fetal alcohol spectrum disorders (FASD) are a global health concern and many different diagnostic criteria are used worldwide. (bmj.com)
  • A developmental ocular anomaly in which the primary VITREOUS BODY and its surrounding hyaloid vasculature failed to regress. (harvard.edu)
  • Use of anti-VEGF should be weighed against the possible risk of fetal developmental abnormalities or pregnancy loss, especially during the first trimester. (uk.com)
  • A wide range of neurologic abnormalities, in addition to microcephaly, has been observed among infants with presumed or confirmed congenital Zika virus infection ( 2 , 4 ). (cdc.gov)
  • Eye exams are critical for children with PAE and/or FASD to identify potential ocular side effects. (reviewofoptometry.com)
  • Articles eligible for inclusion were observational studies in children with PAE and/or FASD, peer reviewed journal articles and studies reporting quantitative or frequency data on functional/structural eye abnormalities. (reviewofoptometry.com)
  • This is the first comprehensive systematic review and meta-analysis to identify the range and prevalence of structural and functional eye abnormalities associated with PAE and FASD in children," the study authors noted in their paper. (reviewofoptometry.com)
  • The review identifies the most prevalent eye abnormalities reported in children with FASD and PAE, providing guidance for clinicians who are assessing individuals following PAE. (reviewofoptometry.com)
  • Our study demonstrates that prenatal alcohol exposure causes neural crest cell migration abnormality and 5-mehtyltetrahydrofolate could be beneficial for treating FASD. (biomedcentral.com)
  • Objective To create an easy-to-use complementary ophthalmological tool to support a fetal alcohol spectrum disorder (FASD) diagnosis. (bmj.com)
  • Four ophthalmological categories, which are abnormalities commonly found in children with FASD, were ranked independently on a 4-point scale, with 1 reflecting normal finding and 4 a strong presence of an abnormality: visual acuity, refraction, strabismus/binocular function and ocular structural abnormalities. (bmj.com)
  • 2019). Ethanol and cannabinoids interact to alter behavior in a zebrafish fetal alcohol spectrum disorder model. (nccu.edu)
  • Up to 90% of newborns with maternal alcohol misuse during pregnancy have ocular damage or abnormalities [14] [15] . (aao.org)
  • In humans, multi-fetal pregnancy occurs when a mother carries more than one fetus during the pregnancy. (asu.edu)
  • The most common multi-fetal pregnancy is twins, but mothers have given birth to up to eight children (octuplets) from a single pregnancy. (asu.edu)
  • Contractures secondary to fetal akinesia are more severe in patients in whom the diagnosis is made early in pregnancy and in those who experience akinesia for longer periods of time during gestation. (medscape.com)
  • Hispersistence finally led to the discovery of the link between thecongenital abnormalities and rubella infection early in themothers pregnancy. (vdocuments.net)
  • A congenital physical anomaly is an abnormality of the structure of a body part. (mdwiki.org)
  • These ocular anomalies were isolated in one case (1/479, 0.2%) and multiple anomalies were found in the other cases. (bvsalud.org)
  • Ocular birthmarks, also known as eye pigmentation anomalies, are fascinating and unique conditions that affect the pigmentation of the eyes. (beattransit.com)
  • Ocular birthmarks are intriguing eye pigmentation anomalies that can present in various forms and colors. (beattransit.com)
  • Some minor anomalies may be clues to more significant internal abnormalities. (mdwiki.org)
  • lack of fetal movement causes extra connective tissue to develop around the joint. (medscape.com)
  • Generalized fetal akinesia can also lead to polyhydramnios , pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. (medscape.com)
  • Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al. (nih.gov)
  • The most common Grade 3 or 4 laboratory abnormalities (≥ 2%) were decreased lymphocytes, decreased albumin, decreased phosphate, decreased potassium, increased alkaline phosphatase, increased glucose, increased gamma-glutamyl transferase, and decreased sodium. (drugs.com)
  • Persistent fetal vasculature. (aao.org)
  • Bilateral persistent fetal vasculature and a chromosome 10 mutation including COX15. (harvard.edu)
  • Fluorescein Angiography in Persistent Fetal Vasculature. (harvard.edu)
  • BTV can cross the placental barrier and has an affinity for cells in the undeveloped foetal brain causing abortions, malformations and reproductive failure (Osburn 1994). (scielo.org.za)
  • In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. (medscape.com)
  • In this chapter, ocular lesions of fetal and child FCMD patients are presented, especially focusing on pathological findings of the retina, and functions of fukutin are discussed. (intechopen.com)
  • Ocular findings include axial eye lengthening with vitreal degeneration and early-onset glaucoma, which can result in vision loss. (mdpi.com)
  • or new deletions of genetic material on chromosome 20 that occur as random events during the formation of reproductive cells (eggs or sperm) or in early fetal development. (medlineplus.gov)
  • Fukuyama congenital muscular dystrophy (FCMD) is one of the congenital muscular dystrophies, showing central nervous system (CNS) and ocular lesions, in addition to muscular dystrophy. (intechopen.com)
  • Studies of ocular lesions are not so many, compared with those of the muscle and CNS. (intechopen.com)
  • The major observation considered to be involved in the pathogenesis of retinal lesions is abnormalities in the internal limiting membrane formed by Müller cells, which is corresponding to the glia limitans formed by astrocytes in the brain. (intechopen.com)
  • In a pregnant woman, placental infection occurs during viremia and may lead to transplacental fetal infection. (cdc.gov)
  • Fetal infection often results in a persistent infection typically leading to hearing impairment and ocular and cardiovascular abnormalities. (cdc.gov)
  • Postnatal ocular abnormalities of congenital ZIKV infection were described after birth in 479 cases. (bvsalud.org)
  • Viral infections of the mother (for example, herpesvirus in dogs), especially during early fetal development, can result in many eye abnormalities with retinal dysplasia in puppies. (merckvetmanual.com)
  • Genomics pioneer says ophthalmology leads the way in genetic research", Ocular Surgery News (2005-11-15): "Mrs. Blagojevich presented the Gov. Rod R. Blagojevich PATH (People are Today's Heroes) Award to Marilyn T. Miller, MD. Dr. Miller received the award in recognition of the care she has provided to children for the past 30 years, Mrs. Blagojevich said. (wikipedia.org)
  • While some ocular birthmarks are present at birth, others may develop later in life or progress over time. (beattransit.com)
  • Inherited abnormalities may be present at birth or appear later, and are important in the development of diseases of the retina in dogs. (merckvetmanual.com)
  • These revelations create novel perspectives in our understanding of fetal development that must be investigated if we are to fully understand the molecular origins of birth defects. (biomedcentral.com)
  • using the more accurate race and Hispanic-origin data from the fetal death rate used to track this objective is calculated the birth certificate. (cdc.gov)
  • However, because some infant deaths as the number of fetal deaths per 1,000 live births plus fetal cannot be matched to their corresponding birth certificates, deaths. (cdc.gov)
  • Patterns of hair growth can be abnormal, serving as external markers of underlying structural brain and central nervous system abnormalities. (medscape.com)
  • Bicuspid aortic valve is the most common congenital cardiovascular abnormality. (msdmanuals.com)
  • Health with a more up-to-date profile of include hearing impairment, heart defects, rubella risk among women of childbearing ocular abnormalities and mental retardation. (who.int)
  • ECEL1 -mutated DA is generally characterized by ocular phenotypes in addition to the congenital limb contractures that are common to all DA subtypes. (biomedcentral.com)
  • Ocular birthmarks are abnormalities in eye pigmentation that occur during fetal development. (beattransit.com)
  • Diseases of the ocular fundus may occur on their own or as a part of generalized diseases. (merckvetmanual.com)
  • It occurs due to a disruption in the sympathetic nerve pathway during fetal development. (beattransit.com)
  • These studies are employing genetic and molecular approaches to examine ocular, forebrain, and hindbrain development in response to ethanol exposure, and the subsequent changes in agrin, Fgf or Shh signaling. (nccu.edu)
  • Agrin function associated with ocular development is a target of ethanol exposure in embryonic zebrafish. (nccu.edu)
  • In this report we investigated the fetal effect of alcohol on the process of neural crest development in the Xenopus leavis. (biomedcentral.com)
  • Attempts to pinpoint the exact chromosomal abnormality are ongoing in clinical trials. (medscape.com)
  • Evaluation by an experienced ophthalmologist is crucial, especially if optic malformation (eg, anterior chamber abnormalities) makes the examination more difficult. (medscape.com)
  • The ocular fundus is the back of the eye opposite the pupil and includes the retina, the membrane (the choroid) between the retina and the white of the eye, and the optic disk. (merckvetmanual.com)
  • More severely affected dogs may also have abnormalities close to where the optic nerve enters the eye, and some will have detachment of the retina. (merckvetmanual.com)
  • 10408 Assessment of Ocular Health AND Enrolment in 372JA Bachelor of Vision Science. (edu.au)
  • These additional characteristics include abnormal facies, cleft lip and palate, vertebral body abnormalities, and abnormalities of neuronal migration. (medscape.com)
  • Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. (nih.gov)
  • Fetal damage occurs through destruction of cells, as well as disruption of cell division. (cdc.gov)
  • OBJECTIVE: To assess fetal and neonatal eyes abnormalities and their progression during the last ZIKV outbreak and summarize learned lessons. (bvsalud.org)
  • The current research emphasis of Dr. Cole's laboratory is to understand the mechanisms of ethanol- and cannabinoid-induced central nervous system abnormalities in zebrafish. (nccu.edu)
  • Before administering arsenic trioxide, assess the QTc interval, correct electrolyte abnormalities, and consider discontinuing drugs known to prolong QTc interval. (nih.gov)
  • It is essential for individuals with ocular birthmarks to undergo regular eye examinations to monitor their eye health and ensure any potential complications are detected early. (beattransit.com)
  • If left untreated, congenital syphilis can result in fetal death or cause damage to the baby's organs or bones. (bonbebe.vn)
  • Treatment options for ocular birthmarks depend on the specific condition and its impact on vision and aesthetics. (beattransit.com)
  • This module is based on the NHS Newborn and Infant Physical Examination Programme and is a screening test for abnormalities of the eyes, heart, hips and testes. (cumbria.ac.uk)
  • We found that pre-gastrulation exposure of 2-4% alcohol induces developmentally non-specific apoptosis, whereas 1% alcohol specifically impairs neural crest migration without significant apoptosis, which consequently lead to neurocristopathies-like abnormalities. (biomedcentral.com)