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Objectives: COVID-19 infection is not limited to medical aspects, but may have significant negative impacts on education, tourism, the economy as well as sociocultural, ethical, and legal aspects. We aimed to assess the multidimensional impact of the COVID-19 pandemic on pediatricians by examining their COVID-19 infection, domestic life and quarantine, as well as work patterns, educational activities, and psychosocial impact. Methods: An online survey consisted of seven sections and 68 questions was prepared through 'Google Forms.' The survey was sent via e-mail to physicians who are members of the National Pediatric Association of Turkey. Results: The pandemic has affected pediatricians working in our country in a multifaceted aspect. They experienced significant anxiety/depression/stress, 8% of them felt it at a pathological level and were receiving treatment, and women and young pediatricians were more vulnerable to the pandemic. The more adequately informed about the disease, the more prepared for COVID-19 and lower levels of psychological distress, which emphasizes the importance of education and institutional continuing support. Our study showed that academic education was seriously disrupted and the satisfaction rate with virtual education was low. Conclusion: Although COVID-19 has less impact today, it has taught us that it is necessary to be ready for new pandemics in the future. The required measures should be taken urgently and effectively healthcare professionals should follow a rational and applicable disaster plan. [ABSTRACT FROM AUTHOR]

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Primordial dwarfism (PD) is one of a highly heterogeneous group of disorders characterized by severe prenatal/postnatal growth restriction. Defects in various pathways such as DNA repair mechanism, impaired centrioles, abnormal IGF expression, and spliceosomal machinery may cause PD including Seckel syndrome, Silver–Russell syndrome. Microcephalic osteodysplastic primordial dwarfism (MOPD) types I/III, II, and Meier–Gorlin syndrome. In recent years with the wide application of exome sequencing (ES) in the field of PD, new genes involved in novel pathways causing new phenotypes have been identified. Pathogenic variants in CRIPT (MIM# 604594) encoding cysteine‐rich PDZ domain‐binding protein have recently been described in patients with PD with a unique phenotype. This phenotype is characterized by prenatal/postnatal growth restriction, facial dysmorphism, ocular abnormalities, and ectodermal findings such as skin lesions with hyper/hypopigmented patchy areas and hair abnormalities. To our knowledge, only three patients with homozygous or compound heterozygous variants in CRIPT have been reported so far. Here, we report on a male patient who presented with profound prenatal/postnatal growth restriction, developmental delay, dysmorphic facial features, and skin lesions along with the findings of bicytopenia and extensive retinal pigmentation defect. A novel truncating homozygous variant c.7_8delTG; p.(Cys3Argfs*4) was detected in CRIPT with the aid of ES. With this report, we further expand the mutational and clinical spectrum of this rare entity. [ABSTRACT FROM AUTHOR]

Objective: Oculoauriculovertebral spectrum (OAVS) is a genetically and clinically heterogeneous disorder that occurs due to a developmental field defect of the first and second pharyngeal arches. Even though recent whole exome sequencing studies (WES) have led to identification of several genes associated with this spectrum in a subset of individuals, complete pathogenesis of OAVS remains unsolved. In this study, molecular genetic etiology of OAVS was systematically investigated. Design/Setting/Patients: A cohort of 23 Turkish patients with OAVS, referred to Hacettepe University Hospital, Department of Pediatric Genetics from 2008 to 2018, was included in this study. Minimal diagnostic criteria for OAVS were considered as unilateral microtia or hemifacial microsomia with preauricular skin tag. The cohort was clinically reevaluated for craniofacial and extracranial findings. Molecular etiology was investigated using candidate gene sequencing following copy number variant (CNV) analysis. WES was also performed for 2 of the selected patients. Results: Patients in the study cohort presented similar demographic and phenotypic characteristics to previously described patients in the literature except for a higher frequency of bilaterality, cardiac findings, and intellectual disability/developmental delay. CNV analysis revealed a possible genetic etiology for 3 patients (13%). Additional WES in 1 of the 2 patients uncovered a novel heterozygous nonsense variant in Elongation factor Tu GTP-binding domain-containing 2 (EFTUD2) causing mandibulofacial dysostosis with microcephaly (MFDM), which clinically overlaps with OAVS. Conclusion: Detailed clinical evaluation for any patient with OAVS is recommended due to a high rate of accompanying systemic findings. We further expand the existing genetic heterogeneity of OAVS by identifying several CNVs and a phenotypically overlapping disorder, MFDM. [ABSTRACT FROM AUTHOR]