No abstract

Pathogenic factors suggest that different forms of vascular injury to the fetal brain (emboli, haemorrhage, vasoconstriction, disseminated intravascular coagulation) can produce partial brain destruction, diminished intracranial pression and skull collapse in the fetal brain disruption sequence.

Mexico is recognized as a country with a high prevalence of gastroschisis, although the cause of this remains unclear. We define the prevalence and potential risk factors for gastroschisis in a public hospital from west México. A casecontrol study was conducted among 270 newborns, including 90 patients with nonsyndromic gastroschisis (cases) and 180 infants without birth defects (controls), born all during the period 2009 to 2013 at the Hospital Civil de Guadalajara "Dr. Juan I. Menchaca" (Guadalajara, Mexico), from a total of 51 145 live births. Potential maternal risk factors for gastroschisis were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. The overall prevalence of gastroschisis in live births was 17.6 per 10 000 births (95% confidence interval [CI] 14.0-21.2), whereas in offspring of women ≤19 years old was 29.9 per 10 000 births (95% CI 21.9-38.0). Mothers ≤19 years (adjusted odds ratio [aOR] 2.8: 95% CI 1.5-5.1), anemia during pregnancy (aOR 10.7; 95% CI 2.0-56.9), first-trimester exposure to hormonal contraceptives (aOR 3.7; 95% CI 1.0-13.0), and first-trimester alcohol consumption (aOR 3.4; 95% CI 1.6-7.3), were associated with gastroschisis. Contrarily, adjusted OR for pre-pregnancy body mass index ≥25 kg/m 2 has protective odds (aOR 0.2; 95% CI 0.1-0.5). Our results suggest an increased risk for gastroschisis among mothers under the age of 20, with anemia during pregnancy, and those who used hormonal contraceptives or consumed alcohol during early pregnancy, whereas, pre-pregnancy overweight has a protective OR, and they are discussed as clues in its pathogenesis.

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.