scholarly journals Congenital malformations in newborns of alcoholic mothers

2010 ◽  
Vol 8 (4) ◽  
pp. 461-466 ◽  
Author(s):  
Maria dos Anjos Mesquita ◽  
Conceição Aparecida de Mattos Segre
Keyword(s):  
Fetal Alcohol Syndrome ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Defects ◽  
Fetal Alcohol ◽  
Congenital Clubfoot ◽  
Live Births ◽  
The City ◽  
Neurodevelopment Disorders

ABSTRACT Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births), 6 with congenital defects related to alcohol (3.0/1,000 live births), and 67 with developmental disorders related to alcohol (34.1/1,000 live births). The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

scholarly journals Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

2019 ◽  
Vol 6 (3) ◽  
pp. 1059
Author(s):  
Padmasani Venkat Ramanan ◽  
Rajesh Balan ◽  
Jyotsna Murthy ◽  
Syed Altaf Hussain
Keyword(s):  
Congenital Anomaly ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Associated Anomalies ◽  
Live Births ◽  
Associated Malformations ◽  
Syndrome Association

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association.  Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations.  Among the non-syndromic children, 9% had associated malformations.  The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies.  The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft.  The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

scholarly journals Effects of alcohol on pregnancy and the fetus. the role of preventive measures in daily practice of an obstetrician

2014 ◽  
Vol 95 (2) ◽  
pp. 287-291
Author(s):  
A Yu Marianian
Keyword(s):  
Alcohol Consumption ◽  
Pregnant Women ◽  
Fetal Alcohol Syndrome ◽  
Developmental Disorders ◽  
Public Awareness ◽  
Reproductive Age ◽  
Practical Significance ◽  
Screening Methods ◽  
Fetal Alcohol ◽  
Women Of Reproductive Age

Alcohol consumption during pregnancy can cause serious birth defects and developmental disorders. The article reviews scientific literature describing modern conceptions of alcohol-associated teratogenicity. Problems of public awareness of alcohol negative impact on pregnancy and the fetus (particularly by informing women of reproductive age and pregnant women) are raised. Literature review revealed that there is a lack of information on fetal disorders associated with alcohol consumption by the mother. Nowadays, alcohol consumption in Russia is one of the highest in the world (15.8 liters per capita per year, including newborns, 2011), which is significantly higher than the absolute level of alcohol consumption associated with serious health risk for an individual and for the population as a whole. Awareness among women of reproductive age and pregnant women is very low. Therefore, it is necessary to inform and teach physicians screening methods of medical problems associated with alcohol intake and brief intervention strategies that will help to identify and inform women at risk for having children with fetal alcohol syndrome and fetal alcohol spectrum disorders and prevent the birth of mentally retarded children. The problem of fetal alcohol syndrome and the whole spectrum of fetal alcohol disorders is of great theoretical and practical significance in Russia.

scholarly journals Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

2021 ◽  
Vol 6 (3) ◽  
pp. 71-77
Author(s):  
T. V. Khmara ◽  
◽  
M. O. Ryznychuk ◽  
N. B. Kuzniak ◽  
S. P. Melnychuk ◽  
...  
Keyword(s):  
Environmental Factors ◽  
Congenital Malformations ◽  
Developmental Disorders ◽  
Cleft Lip ◽  
Congenital Abnormalities ◽  
Chromosomal Abnormalities ◽  
Multiple Pregnancy ◽  
The Body ◽  
Craniofacial Anomalies ◽  
Hereditary Syndromes

Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

scholarly journals Prevalence of cleft lip and palate in Bauru, SP – concordance among registries of HRAC/USP, DNV and SINASC

2021 ◽  
Vol 24 (4) ◽  
Author(s):  
Kelly Fernanda Molena ◽  
Vivian Patricia Saldias Vargas Winckler ◽  
Gisele da Silva Dalben
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Congenital Defects ◽  
Test Results ◽  
Chi Square ◽  
The Public ◽  
Number Of Children ◽  
Chi Square Test ◽  
The City

Objective: Congenital defects, including cleft lip and palate, increase the morbidity and mortality in the affected population. This study aimed to determine the prevalence of cleft lip and palate in the city of Bauru, Brazil, by evaluation of registry in the Brazilian Livebirth Certificate (DNV) and the Information System on Livebirths (SINASC), and analyzed the concordance of diagnosis compared with registries of the Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP), located in the same city. Material and Methods: This retrospective observational study comprised analysis of all DNVs and identification of individuals with clefts born and living in Bauru, comparing with data from HRAC/USP. The prevalence was calculated by dividing the number of children born with clefts in the study period by the total number of livebirths registered. The reporting of different types of clefts was compared by the chi-square test. Results: Overall, 50,898 DNV were evaluated, among which there were 25 reported cases of cleft lip and/or palate. In the same period, HRAC/USP registered 77 cases born in Bauru, representing 67.5% of underreporting of the occurrence of clefts. Cleft palate was the most prevalent (34.9%), followed by cleft lip and palate (31.7%) and cleft lip (30.2%), mostly affecting males (58.5%). The reporting of cleft palate (16.12%) was lower compared to cleft lip (43.75%) and cleft lip and palate (54.54%). Conclusion: The study revealed predominance of cleft palate, with significant underreporting of clefts in the public health system, especially for cleft palate as compared to cleft lip and cleft lip and palate. Keywords Cleft lip; Cleft palate; Epidemiology; Prevalence; Reporting.

Congenital Malformations in Offspring of a Chronic Alcoholic Mother

PEDIATRICS ◽  
1974 ◽  
Vol 53 (4) ◽  
pp. 490-494
Author(s):  
R. Heather Palmer ◽  
Eileen M. Ouellette ◽  
Lyle Warner ◽  
Sandra R. Leichtman
Keyword(s):  
Developmental Delay ◽  
Fetal Alcohol Syndrome ◽  
Congenital Malformations ◽  
Alcohol Intake ◽  
Fetal Alcohol ◽  
Chronic Alcoholic ◽  
Maternal Alcohol ◽  
Growth Deficiency ◽  
Minor Anomalies ◽  
Alternative Theories

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.

Fetal alcohol syndrome – a literature review

2018 ◽  
Vol 14 (3) ◽  
pp. 214-223
Author(s):  
Katarzyna Ludwików ◽  
Konrad Małkiewicz
Keyword(s):  
Literature Review ◽  
Fetal Alcohol Syndrome ◽  
Developmental Disorders ◽  
Alcohol Exposure ◽  
Diagnostic Methods ◽  
State Agency ◽  
Diagnostic Code ◽  
Facial Skeleton ◽  
Fetal Alcohol ◽  
Medical Specialties

The fetal alcohol syndrome (FAS) is a syndrome of congenital somatic and neurological defects occurring in children of mothers who drank alcohol during their pregnancy. Both ethanol and its main metabolite, acetic aldehyde cause developmental disorders in the fetus. The full spectrum FAS includes characteristic abnormalities in the structure of the facial skeleton, height and weight deficits as well as damage in the structure and functions of the central nervous system. The FAS is an incurable disorder and the most severe one among developmental disorders resulting from prenatal exposure to alcohol. In Poland, according to the estimates of Państwowa Agencja Rozwiązywania Problemów Alkoholowych (PARPA) - the State Agency for Prevention of Alcohol-Related Problems, three in a thousand of live births may be affected by the FAS. So far, an alcohol dose that would be safe for the fetus has not been determined and any quantity poses a risk of disturbances in a child’s development. <b>Aim.</b> This paper is aimed at getting to know better the problems of the Fetal Alcohol Syndrome, presentation of its symptoms and diagnostic methods based on an analysis of available literature. <b>Material and methods.</b> A literature review was conducted based on the following databases: PubMed, Scopus, Dentistry & Oral Sciences Source, Polska Bibliografia Lekarska /Polish Medical Bibliography/, with the use of the key words: FAS, fetal alcohol syndrome, facial abnormalities, prenatal alcohol exposure. For analysis, 35 papers published in the years 1968-2016 in the Polish and English languages were selected. <b>Conclusions.</b> Although for the diagnostics of the fetal alcohol syndrome in Poland a four-digit diagnostic code is applied, the FAS continues to represent a difficult diagnostic challenge and its correct diagnosis requires collaboration of physicians in numerous medical specialties.

scholarly journals The comorbidity of fetal alcohol syndrome and sleep apnea/hypopnea syndrome in a 7‑year-old girl (a clinical case)

2020 ◽  
Vol 14 (4) ◽  
pp. 38-42
Author(s):  
K. D. Yakovleva ◽  
O. V. Alekseeva ◽  
N. A. Shnayder ◽  
D. R. Sidorenko ◽  
D. V. Dmitrenko
Keyword(s):  
Sleep Apnea ◽  
Fetal Alcohol Syndrome ◽  
Developmental Disorders ◽  
Clinical Case ◽  
Sleep Apnea Syndrome ◽  
Interdisciplinary Approach ◽  
Fetal Alcohol ◽  
Apnea Syndrome ◽  
Hypopnea Syndrome

Fetal alcohol syndrome is the result of prenatal effect of alcohol on the fetus and manifests as disorders of neural and mental development and various congenital developmental disorders leading to comorbid diseases. Among congenital developmental disorders for the pathology, adenotonsillar pathology was described. Narrowing of the nasopharyngeal opening, faciomaxillary dysmorphias and muscle hypotony can lead to sleep apnea syndrome. The article presents a clinical case of fetal alcohol syndrome and sleep apnea in a 7‑year-old girl with multiple developmental disorders born form alcohol-abusing mother. Breathing abnormalities during sleep must be differentiated per character and cause. Cardiorespiratory monitoring is used to diagnose respiratory abnormalities, the results determine patient management tactics. Interdisciplinary approach to observation and treatment of a child with fetal alcohol syndrome is necessary to increase the effectiveness of rehabilitation measures and patient’s quality of life.

Birth Prevalence of Cleft Lip and Palate in Sucre, Bolivia

2004 ◽  
Vol 41 (2) ◽  
pp. 195-198 ◽  
Author(s):  
Niall M. H. McLeod ◽  
Marcelo L. Arana Urioste ◽  
Nadeem R. Saeed
Keyword(s):  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Published Data ◽  
South American ◽  
Racial Groups ◽  
South American Population ◽  
Birth Prevalence ◽  
Live Births ◽  
Maternity Hospitals ◽  
The City

Objective To determine the birth prevalence of cleft lip and palate (CL ± P) in the municipality of Sucre, Bolivia. To ascertain whether the birth prevalence in this region differs significantly from birth prevalence reported in similar populations and other racial groups. Results Twenty-eight clefts were identified among 22,746 live births between the years 1995 and 2001 in three maternity hospitals in the city. The total birth prevalence of CL ± P was 1.23/1000 live births per year. There were 12 clefts of the lip alone (birth prevalence 0.53/1000 per year), 15 cleft lip and palate (0.66/1000 per year), and one cleft palate only (0.04/1000 per year). Conclusions The birth prevalence was not significantly different from birth prevalence published previously in South American populations, although it is lower than previously published data from Bolivia. The birth prevalence of CL ± P in this South American population was similar to published data in white subjects and between those found in black and oriental groups. The sex ratio and birth prevalence of simultaneous congenital malformations also did not differ from previously published figures.

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