Toluene Embryopathy: Delineation of the Phenotype and Comparison With Fetal Alcohol Syndrome

PEDIATRICS ◽  
1994 ◽  
Vol 93 (2) ◽  
pp. 211-215
Author(s):  
Margaret A. Pearson ◽  
Mary E. Rimsza ◽  
H. Eugene Hoyme ◽  
Laurie H. Seaver

Objective. To determine if maternal toluene abuse produces any structural or developmental disabilities in the developing fetus, a cohort of toluene-exposed infants was ascertained and examined. Methodology. Eighteen infants with a history of in utero toluene exposure were examined at birth. Nine of these infants were reexamined 3 to 36 months after their initial evaluations. The clinical findings in these patients were compared with those of similarly exposed children from the literature and with patients who had the fetal alcohol syndrome. Results. Thirty-nine percent of all toluene-exposed infants described in this and other studies were born prematurely, and 9% died during the perinatal period. Fifty-four percent were small for gestational age, and 52% exhibited continued postnatal growth deficiency. A 33% incidence of prenatal microcephaly, a 67% incidence of postnatal microcephaly, and an 80% incidence of developmental delay were observed. Eighty-three percent of the patients had craniofacial features similar to the fetal alcohol syndrome, and 89% of these children had other minor anomalies. Conclusions. Data from the patients herein described and the available scientific literature suggest that the mechanism of alcohol craniofacial teratogenesis may be nonspecific, with a variety of teratogens, including toluene, giving rise to phenotypic facial abnormalities similar to those of the fetal alcohol syndrome. We propose a common mechanism of craniofacial teratogenesis for toluene and alcohol, namely a deficiency of craniofacial neuroepithelium and mesodermal components due to increased embryonic cell death.

Author(s):  
John C. Thorne ◽  
Tracy Jirikowic

Fetal alcohol spectrum disorders (FASD) is an umbrella term used to refer to the range of negative outcomes associated with prenatal ethyl-alcohol exposure (PAE). Although the impact of maternal drinking on the pre and postnatal development of children was examined as early as the late 19th century (Sullivan 1899), the teratogenic effects of PAE were not widely recognized until 1973, when Jones and Smith discussed PAE. The fetal alcohol syndrome (FAS) they described is now recognized internationally as a permanent birth defect syndrome resulting from PAE. Fetal alcohol syndrome is characterized by growth deficiency, a unique cluster of three minor facial anomalies, and evidence of central nervous system (CNS) abnormalities. At an estimated prevalence of one to three cases per 1,000 live births, FAS is the leading known preventable cause of developmental and intellectual disabilities (Bailey and Sokol 2008). Because the distinctive FAS facial phenotype provides a specific diagnostic marker of PAE (Astley 2006), FAS is the most readily recognized of the FASD. Fetal alcohol spectrum disorders that lack the tell-tale facial phenotype of FAS are more difficult to diagnose, but share a similar range and severity of CNS impairments and social costs. Other FASDs are many times more prevalent than FAS (Bailey and Sokol 2008) and may occur in as many as 1% of all children. Along with CNS, craniofacial, and growth impairments, FASD may also include ophthalmologic, cardiac, renal, and orthopedic abnormalities. Although heavier PAE, particularly binge drinking, leads to increased risk of FASD, no safe exposure level has been established. It is apparent that risk is substantially increased if the mother is older, has a history of alcoholism, has a family history of FASD, or is living in poverty. However, no clear set of risk or protective factors has been determined for any FASD that would allow for evidence-based advice to a particular mother on the relative risk that a particular level of drinking might have on her child’s development (Bailey and Sokol 2008; Jacobson et al. 2004; Maier and West 2001; Nulman et al. 2004; see also Disney et al. 2008).


1998 ◽  
Vol 22 (9) ◽  
pp. 1998-2012 ◽  
Author(s):  
Heather Carmichael Olson ◽  
Julie J. Feldman ◽  
Ann P. Streissguth ◽  
Paul D. Sampson ◽  
Fred L. Bookstein

The Lancet ◽  
1977 ◽  
Vol 310 (8051) ◽  
pp. 1292-1293 ◽  
Author(s):  
Lusia Hornstein ◽  
Carol Crowe ◽  
Ralph Gruppo

1982 ◽  
Vol 49 (1) ◽  
pp. 30-35 ◽  
Author(s):  
Eileen M. Furey

Fetal alcohol syndrome (FAS) is defined by a pattern of characteristics that include prenatal and postnatal growth deficiencies, short eyelid slits, abnormal jaw protrusion, altered palmar crease patterns, and joint and cardiac anomalies. The major outcome of the FAS is mental deficiency concomitant with fine motor dysfunction. This article explores recent findings on FAS, patterns of malformation, alcohol and other drugs, the toxicity of ethanol, the incidence of FAS, and implications of the syndrome.


PEDIATRICS ◽  
1974 ◽  
Vol 53 (4) ◽  
pp. 490-494
Author(s):  
R. Heather Palmer ◽  
Eileen M. Ouellette ◽  
Lyle Warner ◽  
Sandra R. Leichtman

Three cases in one family—a girl and monozygotic girl twins, the offspring of a chronic alcoholic mother —are presented. They show a pattern of prenatal onset of growth deficiency and developmental delay, with microcephaly, small palpebral fissures, and multiple minor anomalies, recently described in a series of 11 unrelated cases by Jones et al. and named by them the "fetal alcohol syndrome." After considering alternative theories, we conclude, with them, that the cases demonstrate an association between the maternal alcohol intake and the abnormalities found in the offspring. We report these three cases in confirmation of their findings.


2010 ◽  
Vol 88 (10) ◽  
pp. 818-826 ◽  
Author(s):  
Nina Kaminen-Ahola ◽  
Arttu Ahola ◽  
Traute Flatscher-Bader ◽  
Sarah J. Wilkins ◽  
Greg J. Anderson ◽  
...  

PEDIATRICS ◽  
1981 ◽  
Vol 68 (6) ◽  
pp. 850-855 ◽  
Author(s):  
Sally E. Shaywitz ◽  
Barbara K. Caparulo ◽  
Elizabeth Susan Hodgson

Two pre-school-aged patients with a history of prenatal exposure to ethanol had abnormal head size and developmental delay. Both children were strikingly similar in physical appearance, behavior, and cognitive dysfunction. Facial features were typical of fetal alcohol syndrome. Head circumference >97th percentile without hydrocephalus and no evidence of prenatal or postnatal growth failure were unusual for ethanol teratogenicity. Each child had a similar pattern of verbal and behavioral dysfunctions characterized by (1) marked hypervigilence, (2) distractability, and (3) cognitive confusion manifested as anxiety and behavioral disorganization. It is suggested that a history of prenatal exposure to ethanol associated with (1) large head circumference, (2) facial features of fetal alcohol syndrome, and (3) early developmental delay, particularly in language acquisition, and impaired modulation of attention and arousal may represent a possible new effect of alcohol teratogenicity.


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