Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical picture of the fetal alcohol syndrome (FAS) is described by the example of three girls aged 9, 11 and 11 years. Besides mild to moderate mental retardation, all the three girls had a number of physical anomalies characteristic of FAS. Inheritance as the possible cause of these defects was ruled out by genetic testing. Low birth weight, delay in the postnatal growth and development, microcephaly, hypertelorism, malformed and low-positioned auricles, as well as skeletal alterations, were observed in the three girls. In two of them, epicanthus, strabismus, microphtalmia, gothic palate, crossbite and arachnodactyly were also found. Progenia, cleft palate, aplasia of the uvula, wide root of the nose, saddle nose, enamel hypoplasia, dermatoglyphic alterations, and cutaneous syndactyly and clinodactyly of the fifth finger were recorded in single cases each. One girl suffered from epilepsy. The orofacial region is especially affected in children with FAS, which necessitates specific dental care. Due to decreased intellectual abilities of such children, their treatment is particularly difficult and requires specific approach and methods of work.
 ...
PMID:[Fetal alcohol syndrome--case report]. 181 57

An ophthalmological study was conducted on a series of 28 Swedish children suffering from mild mental retardation without an obvious aetiological diagnosis. The eye examination supported a diagnosis of foetal alcohol syndrome in five out of six suspected cases and revealed two additional not previously suspected (25%). Eye anomalies were observed in 16 patients (57%) with fundus abnormalities (optic nerve hypoplasia, retinal dystrophy) being most frequent, occurring in 11 cases (39%). Four patients had substantially reduced visual acuity in both eyes. Eight children had abnormal features of the face and outer eye region. Ocular motility disturbances (strabismus or nystagmus) were seen in five patients. The ophthalmological study disclosed that at least 10% of this group of children with mild mental retardation suffered from the foetal alcohol syndrome. It is concluded that, in children with mental retardation, an ocular examination is a valuable diagnostic tool for revealing prenatal origin.
 ...
PMID:Contribution of ocular examination to the diagnosis of foetal alcohol syndrome in mentally retarded children. 226 51

Thirty children suffering from the fetal alcohol syndrome (FAS) were compared with 22 matched controls regarding malformations of the eyes and the visual function. All mothers to the FAS children had a documented abuse of alcohol during pregnancy. It was not possible to get reliable, detailed data on drinking habits, nor could it be ruled out that some mothers might have used psychopharmaceutic drugs during periods of the pregnancy. Defects of the outer eye region, or intraocular abnormalities, or both, were found in 27 FAS children (90%). Anomalies of the outer region like ptosis and strabismus were frequently found in the FAS children but were not common in the controls. Abnormalities in the anterior segments and media were found in six eyes. Malformations of the fundus were the most frequently occurring abnormalities in the FAS children. Forty-eight per cent of the eyes showed hypoplasia of the optic nervehead and 49% had an abnormal tortuosity of the retinal arteries. These variables were studied quantitatively by a new photogrammetric method. There were serious consequences to the vision of the FAS children. Nineteen per cent of the eyes has a visual acuity of 0.2 (20/100) or less, and 46% had 0.3-0.6 (20/60-20/30). Almost all controls had normal vision. As maternal alcohol abuse during pregnancy was the only variable which could be traced in every case of FAS, it is appears very likely that alcohol caused the abnormalities of the eyes, possibly through non-specific, intra-uterine growth retardation. It that were the case, ocular abnormalities should be common in children with non-FAS growth retardation. A control study did not support this possibility.
 ...
PMID:Ocular abnormalities in the fetal alcohol syndrome. 298 63

Anterior segment anomalies were noted in eight children diagnosed as having the fetal alcohol syndrome. Peters' and Axenfeld's anomalies were among the specific defects noted. Four children have maintained clear corneal grafts. A teratogenic action of alcohol during a critical period of development of anterior chamber structures is suggested as an etiologic factor. It is proposed that the varied types and severity of abnormalities noted might result from differences in blood alcohol levels, timing of the insult, and genetic background of the fetus. The observation of various types of malformations thought to share a similar pathogenesis lends additional support to the assumption that there is an interrelationship among these types of congenital segment pathology.
J Pediatr Ophthalmol Strabismus
PMID:Anterior segment anomalies associated with the fetal alcohol syndrome. 670 58

The fetal alcohol syndrome (FAS) occurs in children born by alcoholic mothers. The syndrome consists of growth deficiency of prenatal onset, central nervous system effects with retarded mental and motor development and malformations of various organs, the most striking being the facial abnormities. There is a small head circumference and midfacial deformities. Typical eye features are telecanthus, epicanthus, short palpebral fissures, a flat nose bridge, ptosis, microphthalmus and strabismus. 30 children with FAS were examined for defects of the inner parts of the eyes. Malformations of the optic discs and retinal vessels were the most frequent findings, occurring in 16 children. Another five children had borderline findings. Nine had bilateral hypoplasia of the optic discs, eight of them also with changes of the retinal vessels, most often increased tortuousity. Four children showed bilateral optic atrophy. One of them also had highly tortuous retinal vessels. One girl had very tortuous retinal vessels without other findings in her fundi. One boy had pronounced malformations of both eyebulbs and another boy had bilateral changes of his eyeground structures. Various intraocular malformations were observed in 53% of the children with FAS.
 ...
PMID:Eyeground malformations in the fetal alcohol syndrome. 689 Aug 60

Significant alcohol ingestion during pregnancy can cause a spectrum of malformation of various degrees of severity in offspring. The full expression of "fetal alcohol syndrome" includes reduced growth, facial anomalies, and mental retardation. Affected infants are usually of near-term gestation, but small in weight and length. They continue to exhibit decreased growth postnatally. Mental retardation appears to be related to the degree of dysmorphic severity of appearance. It is primarily caused by central nervous system pathology rather than social environment. The most prevalent ophthalmologic finding in our series of a short horizontal palpebral fissure appears to be due primarily to a marked increased in intercanthal distances between the medial canthi (primary telecanthus) and to less extent mild displacement of the lateral canthi. Ptosis, often asymmetric, was noted in a number of patients. Comitant convergent strabismus was present in about 50% of our cases; a few had amblyopia. An important observation was the frequent and often high degree of myopia in these children. Low-incidence anomalies include corneal opacities (Peters anomaly in one), cataract, tortuosity of retinal vessels, and long eyelashes. Our findings plus many observations in the literature establish that children with fetal alcohol syndrome are at considerable risk for a variety of eye problems.
J Pediatr Ophthalmol Strabismus
PMID:Fetal alcohol syndrome. 726 59

Children with the fetal alcohol syndrome often have ocular anomalies. These include abnormalities of the eyes and adnexa (strabismus, blepharoptosis, epicanthus), as well as intraocular defects (cataract, glaucoma, persistent hyperplastic primary vitreous, retinal and optic nerve anomalies). Based on the clinical results in an ophthalmological study of a group of Swedish children with the fetal alcohol syndrome, in which optic nerve hypoplasia was found in up to one-half of the group, an experimental study was designed in rats pre- and perinatally exposed to alcohol by means of a liquid diet. The optic nerve was seriously affected. Macroglial cells and optic axons were ultrastructurally damaged. The diameter of the optic nerve cross section, glial cell nuclear area, axonal diameter, and the total number of optic axons showed significantly lower values in the alcohol-exposed group than in the controls. In addition, the retina from the alcohol-exposed animals displayed significantly lower values of the retinal thickness and ganglion cell nuclear volume, as compared to the controls. Thus, rats exposed to alcohol in utero developed hypoplasia of the optic nerve similar to the findings in children born to alcoholic mothers. This strongly supports the hypothesis that prenatal alcohol exposure may adversely affect the development of the optic nerve.
 ...
PMID:Optic nerve hypoplasia: comparative effects in children and rats exposed to alcohol during pregnancy. 780 Dec 97

The fetal alcohol syndrome (FAS) is caused by maternal alcohol misuse during pregnancy and is characterized by pre- and postnatal growth retardation, central nervous system anomalies and a wide spectrum of malformations, the most typical being the craniofacial features. The eye is a sensitive indicator of the adverse effects of environmental agents, and the ocular abnormalities observed in children with FAS indicate that the developing eye is particularly affected by alcohol. The external signs include short palpebral fissures, telecanthus, epicanthus, blepharoptosis, microphthalmos and strabismus. Within the eyes, the signs and symptoms most commonly detected are optic nerve hypoplasia, increased tortuosity of the retinal vessels and impaired vision. Experimental models of FAS, closely reproducing characteristics of human FAS, have contributed to our understanding of the cellular and molecular basis of the action of alcohol in the developing visual system. As there is such a high frequency of eye signs and symptoms in FAS, an ophthalmological examination is important when making the diagnosis, as well as in the management of the disorder. Current knowledge of ophthalmological involvement in FAS in humans is presented, as well as a review of findings using animal models specially designed for studying ocular developmental changes induced by alcohol.
 ...
PMID:Ophthalmic involvement in the fetal alcohol syndrome: clinical and animal model studies. 1182 49

Children with fetal alcohol syndrome (FAS) may have impaired vision and various ocular abnormalities. All parts of the eye may be affected and anomalies such as microphthalmus, microcornea, Peters' anomaly, cataract, persistent hyperplastic primary hyaloid vitreous body, coloboma of the iris and choroid, retinal dysplasia and, most commonly, optic nerve hypoplasia and tortuosity of the retinal vessels, have been reported. The periocular facial features consist of short palpebral fissures (included in the criteria for diagnosis of FAS), telecanthus, epicanthus and blepharoptosis. Visual function may be reduced to a moderate or severe degree. Refractive errors and strabismus are common. Considering the high frequency of ocular pathology in FAS, an ophthalmological examination is helpful in making the diagnosis. The early detection of impaired vision and ocular abnormalities in affected children is important in the management of the disorder. In this article, the ophthalmological signs and symptoms in children with FAS are presented.
 ...
PMID:Visual impairment and ocular abnormalities in children with fetal alcohol syndrome. 1522 41

The adverse effects of alcohol on the developing human comprise a spectrum of structural anomalies and behavioral and neurocognitive disabilities, most accurately termed fetal alcohol spectrum disorders (FASD). We previously have proposed revisions to the 1996 Institute of Medicine Diagnostic Criteria for diagnoses in the FASD continuum [fetal alcohol syndrome (FAS), partial fetal alcohol syndrome (PFAS), alcohol related birth defects (ARBD), and alcohol related neurodevelopmental disorder (ARND)], allowing for more reproducible and accurate FASD diagnosis in a clinical setting [Hoyme et al., 2005]. The NIAAA recently has coordinated and funded an international consortium of projects aimed at more complete characterization of the teratogenic spectrum of alcohol. One of the projects sites is in Finland. The aims of this project are: (1) to completely clinically characterize the structural and learning/behavioral phenotypes of a large cohort of older children and adolescents with moderate to severe disability within the FASD continuum; (2) to correlate FASD dysmorphology and behavioral phenotypes with CNS structure and function (i.e., MRS, MRI correlations); (3) to compare the phenotype of a genetically homogeneous population of Finnish children with FASD to that observed in other populations. We have recently completed dysmorphology examination and parent/guardian interviews of the 77 children in the Finnish cohort. The purpose of this report is to present historical and morphometric data on these patients, thereby more completely delineating the clinical spectrum of FASD in older children and adolescents, contrasting the phenotype with that described in other populations and examining whether a weighted dysmorphology score could be used as a clinical and research adjunct when fetal alcohol exposure is being suspected. All children were previously diagnosed with FASD by an experienced pediatric specialist in Finland, and all were exposed to significant maternal alcohol abuse prenatally. The sex ratio of the cohort was 0.38 (male: female) and ages ranged from 8 to 20 years, with a mean of 13 years. After application of the Revised IOM Diagnostic Criteria, 53% of the subjects were diagnosed as having FAS, 30% PFAS, 12% ARND, and 5% other diagnoses. Of note, although a family history of mental retardation or birth defects was rare, 43% of the children had one or more sibling who also carried a diagnosis of FAS. Eighty-nine percent of the mothers smoked cigarettes during gestation; other teratogenic exposures were rare. Almost none had undergone genetics evaluation in the past. Almost all of the subjects had resided in multiple foster placements since early childhood and had been followed regularly by pediatric specialists. Although 11% were born prematurely, 70% demonstrated prenatal growth deficiency, and 45% were microcephalic. Other than growth deficits and the cardinal facial features, the most common major and minor anomalies noted were: camptodactyly (55%), "hockey stick" or other altered palmar creases (51%), refractive errors (40%), strabismus (38%), dental crowding (43%), nail hypoplasia (38%), GU anomalies (22%), and congenital heart defects (18%), "Railroad track" ears were not observed in this population.
 ...
PMID:Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents. 1635 36


1 2 Next >>