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Background: 2q37 deletion syndrome is a rare autosomal dominant disorder caused by deletions in the 2q37 cytobands leading to developmental delay, intellectual disability, behavioral abnormalities and dysmorphic craniofacial features with more than 115 patients described worldwide.Case Presentation: We describe a Colombian 3-year-old patient with verbal communication delay, umbilical hernia, facial dysmorphic features, hypotonia, and macrocephaly with normal magnetic resonance imaging. Microarray-based comparative genomic hybridization revealed a 5.9 Mb deletion in the 2q37.2 and 2q37.3 regions, eliminating 60 protein-coding genes in one of her chromosomes 2 and allowing the diagnosis of 2q37 deletion syndrome in this patient. Therapeutic interventions so far were the surgical correction of the umbilical hernia.Conclusions: Genetic tests are important tools for the diagnosis of clinically complex and infrequent conditions but also for timely diagnosis that allows appropriate surveillance, interventions, and genetic counseling. This case also provides information for expanding the phenotypical and genetic characterization of 2q37 deletion syndrome. [ABSTRACT FROM AUTHOR]

Introduction: In utero Zika virus (ZIKV) exposure has been related to a group of congenital structural abnormalities called the congenital Zika syndrome, which also has been related to neurodevelopment alterations even in normocephalic children. Physical growth has been less explored, and delayed growth and malnutrition have been reported., Objective: The objective of this study is to describe the growth and neurodevelopment features of normocephalic infants born from a cohort of mothers with RT-PCR confirmed ZIKV during pregnancy in Risaralda, Colombia., Methods: We conducted a retrospective cohort, including normocephalic children born from mothers with RT-PCR confirmed ZIKV infection during pregnancy in Risaralda, Colombia. Physical growth was measured using WHO standards, and neurodevelopment was measured with the abbreviated neurodevelopment scale 2 validated for Colombia., Results: After verifying inclusion and exclusion criteria, 16 children were followed during a median time of 28 months (IQR 23-31 months); for a total of 116 visits, 87.5% (n = 14) of the patients developed a growth alteration. Five presented post-natal microcephaly, and among them, four presented malnutrition or low height. Six patients developed macrocephaly. Patients with a normal head circumference had normal neurodevelopment. Only one patient with microcephaly persisted with impairment of the neurodevelopment at the end of follow-up. All the patients with macrocephaly had normal neurodevelopment., Discussion: Our study suggests that growth could be altered in infants with in utero Zika exposure. We found a high proportion of patients with overgrowth and macrocephaly. Future studies should consider endocrine follow-up of children born with in utero Zika exposure to explore these findings' possible aetiologies., Conclusion: We found a high proportion of growth alterations, particularly with overgrowth features and macrocephaly. Our study suggests that in addition to neurodevelopment impairment, growth could be altered in infants and children with in utero Zika exposure, even in those patients born without CZS., (© The Author(s) [2021]. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.)