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

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.
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PMID:Ocular abnormalities in the fetal alcohol syndrome. 298 63

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.
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PMID:Fetal alcohol spectrum disorders in Finland: clinical delineation of 77 older children and adolescents. 1635 36