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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.

Bruna Lucheze FreireThais Kataoka HommaAntônio Marcondes LerarioGo Hun SeoHeonjong HanMariana Ferreira de Assis FunariNathalia Lisboa GomesCarla RosembergAna Cristina Victorino KrepischiGabriela de Andrade VasquesAlexsandra Christianne MalaquiasAlexander Augusto de Lima Jorge
Published in: American journal of medical genetics. Part A (2022)
Most infants born with very low birth weight (VLBW, birth weight < 1500 g) show spontaneous catch-up growth in postnatal life. The reasons for the absence of catch-up growth are not entirely understood. We performed a comprehensive investigation of 52 children born with VLBW. Ten children had a history of an external cause that explained the VLBW and five refused genetic evaluation. Twenty-three cases were initially evaluated by a candidate gene approach. Patients with a negative result in the candidate gene approach (n = 14) or without clinical suspicion (n = 14) were assessed by chromosome microarray analysis (CMA) and/or whole-exome sequencing (WES). A genetic condition was identified in 19 of 37 (51.4%) patients without an external cause, nine by candidate gene approach, and 10 by a genomic approach (CMA/WES). Silver-Russell syndrome was the most frequent diagnosis (n = 5) and the remaining patients were diagnosed with other rare monogenic conditions. Almost all patients with a positive genetic diagnosis exhibited syndromic features (94.4%). However, microcephaly, neurodevelopmental disorders, major malformation, or facial dysmorphism were also frequently observed in children with an external cause. In conclusion, a significant proportion of children born with VLBW with persistent short stature have a genetic/epigenetic condition.
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