Altitude as a risk factor for congenital anomalies

Castilla, Eduardo E.; López-Camelo, Jorge S.; Campaña, Hebe

doi:10.1002/(sici)1096-8628(19990903)86:1<9::aid-ajmg3>3.0.co;2-x

Cited by 132 publications

(111 citation statements)

References 22 publications

(28 reference statements)

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“…Among methodological differences, the classification-whether only isolated or isolated and unclassified multiple or isolated, unclassified multiple and specified CA syndromes of microtia/anotia are evaluated-and ascertainment-whether type I/minor microtia or Facio-Auriculo-Vertebral Spectrum: FAVS is included to the group of isolated microtia/anotiaproblems need to be mentioned, beyond the differences in the completeness of ascertainment and the quality of diagnoses. However, population characteristics are also important: microtia/anotia is relatively rare in white and black people, more frequent in Hispanics, mainly in children born in Mexico [15] and particularly in regions within special geographical clusters of microtia/anitia as in Quito, Ecuador [14] and the Navajo Indians in the USA state of New Mexico [16], in addition to populations living in high altitudes [17]. Nevertheless, differences in ascertainment and diagnostic criteria are probably the major source of great variations in the rate of external ear CAs, mainly microtia/anotia; therefore, their comparison demands caution among interpreting data for different populations/registries/studies.…”

Section: Discussionmentioning

confidence: 99%

Prevalence at birth of congenital abnormalities of external ears in Hungary

Paput¹,

Bánhidy

Czeizel

2011

Open Medicine

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AbstractThe objective of the study was to estimate the prevalence at birth and epidemiologic characteristics of patients/cases with both isolated and multiple “syndromic” external ear congenital abnormalities (CAs) in Hungary. The Hungarian Congenital Abnormality Registry, 1980–1996, included 649 cases with isolated external ear CAs, while the number of cases with unclassified multiple CA, including ear CAs, was 331. Thus the prevalence at birth of cases with isolated external ear CAs and unclassified multiple CAs was 0.30 and 0.15, respectively, for a total 0.46 per 1000 births. After reevaluation of reported 354 cases with isolated external ears CAs in the Hungarian Case-Control Surveillance of Congenital Abnormalities, 74 (20.9%) and 236 (66.7%) were affected with mild and severe microtia, while 24 (6.8%) had anotia. The fourth group included 20 cases with the combination of anotia/microtia and external/middle ear CAs. Isolated ear CAs showed a slight male excess (54.0%) and strong predominance of unilateral manifestation (93.4%). Multiple ear CAs showed a stronger male excess (65.4%) and less frequent unilateral affection (62.2%). In conclusion, ear CAs had a low diagnostic validity; thus it was necessary to reassess the data and to reclassify several cases.

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Section: Discussionmentioning

confidence: 99%

Prevalence at birth of congenital abnormalities of external ears in Hungary

Paput¹,

Bánhidy

Czeizel

2011

Open Medicine

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“…Oral clefts frequently occur in combination with a wide range of chromosomal abnormalities and syndromes (trisomy 13, amniotic band anomalad, Fryns syndrome, Meckel syndrome, Stickler syndrome, Treacher Collins syndrome, van der Woude syndrome, Velocardiofacial syndrome, etc.) [24] and environmental factors such as medication during pregnancy, maternal alcohol consumption and smoking, dietary and vitamin deficiencies, diabetes, environmental toxins, altitude, birth order, socioeconomic status, and parental age [25][26][27][28][29]. Other genetic factors that may affect the presence of OFCs include maternal ability to maintain red blood cell zinc concentrations and myoinositol concentrations (a hexahydroxycyclohexane sugar alcohol) [30].…”

Section: Causesmentioning

confidence: 99%

Orofacial Clefts: A Worldwide Review of the Problem

Agbenorku

2013

ISRN Plastic Surgery

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Orofacial cleft is one of the commonest congenital abnormalities which impacts negatively on the life of the individual and to a large extent affects the family. Caused by the interaction of environmental and genetic factors, this abnormality brings about decreased quality of life. Management of this abnormality entails a team involving a cleft surgeon, speech therapist, dentist, orthodontists, and so forth. This study involves the review of the various literatures on orofacial clefts, discussing the problems on the genetic basis, associated syndromes, and their management. Counseling of prospective mothers should be promoted to ensure that the abnormality is prevented at the early stages. Education on orofacial clefts should be promoted to create awareness on its preventive measures. Much attention must be geared towards cleft genetics studies to identify potential risk factors which might be predisposing individuals to the anomaly.

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“…Residents with Amerindian background born in three high-altitude Andean cities (between 2600 m and 3600 m) and in 38 low-altitude cities (between 5 m and 905 m) were surveyed for a number of conditions, and relatively low frequencies of anencephaly [relative risk (RR 0.33)], spina bifida (RR 0.57), hydrocephaly (RR 0.41) and pes equinovarus (RR 0.70) were found in the high altitude samples (Castilla et al 1999). Although the data were not stratified according to ethnic origin, the high frequency of aboriginal people in the high-altitude sample suggests that the difference in susceptibility to neural tube defects (NTDs) may be characteristic of these populations.…”

Section: Introductionmentioning

confidence: 99%

Methylenetetrahydrofolate Reductase (MTHFR) Allele Frequencies in Amerindians

Monsalve

Salzano

Rupert

et al. 2003

Annals of Human Genetics

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SummaryNeural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same gene, is also associated with an increased risk for NTDs but only in conjunction with the 677T allele. A low incidence of NTDs has been observed in high-altitude populations; however, these studies did not provide information about the allele distribution of genes involved in folate metabolism. This investigation compares allele frequencies of the C677T and A1298C polymorphisms between Quechua people living at 3200-4200 m in the Peruvian Central Andes and an Aché group living at low altitude. Allele frequencies at both loci were not significantly different between the two populations. The absence of the 677T/677T genotypes and of the 677T/1298C arrangement in both groups may indicate a genetic contribution to reduced risk for NTDs; however, factors other than altitude are likely responsible for the low variant allele frequencies in these populations.

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Altitude as a risk factor for congenital anomalies

Cited by 132 publications

References 22 publications

Prevalence at birth of congenital abnormalities of external ears in Hungary

Prevalence at birth of congenital abnormalities of external ears in Hungary

Orofacial Clefts: A Worldwide Review of the Problem

Methylenetetrahydrofolate Reductase (MTHFR) Allele Frequencies in Amerindians

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