Pediatric Reports

Background: Hereditary Multiple Exostoses (HME) is a rare autosomal dominant skeletal disorder resulting from loss-of-function variants in the EXT1, EXT2, or EXT3 genes. While malignant transformation into chondrosarcoma is well documented, the incidence and characterization of non-skeletal malignancies in HME remain poorly defined. Objective: We aimed to comprehensively review the literature for reported cases of non-skeletal malignancies in individuals with HME and evaluate a potential association with hematologic cancers, particularly in the pediatric population. Methods: An extensive literature search was conducted in the PubMed database up to August 2025 using search terms related to HME and malignancy. Eligible reports included case descriptions of non-skeletal cancers occurring in patients with confirmed or suspected HME. Extracted data included patient age, sex, cancer type, and available genetic or molecular findings. Results: Thirteen cases of non-skeletal malignancies associated with HME were identified. Fewer than half underwent molecular genetic testing. Six cases occurred in pediatric patients, four of which involved hematologic malignancies, three leukemias and one Burkitt lymphoma. In adults, malignancies affected a range of organ systems, including respiratory, gastrointestinal, nervous, and endocrine. A marked male predominance was observed (11 males vs. 2 females). Conclusions: Although a definitive causal relationship cannot be established, hematologic malignancies in pediatric HME patients appear to be disproportionately represented among reported cases. This finding highlights the need for further investigation through large-scale, population-based studies incorporating both clinical and genetic data.

Early identification of neurodevelopmental trajectories is essential for timely intervention in infancy. While joint mobility is often seen as an indicator of motor capacity, its link to early functional performance remains unclear. This study examined whether active shoulder range of motion and the quality of spontaneous movement quality relate to early upper limb function in infants under three months. Thirty-two healthy infants participated in a cross-sectional assessment. Video recordings analyzed with the General Movements Assessment classified movements as Fidgety or Writhing. Fine motor performance was evaluated using five items from the Denver II Screening Test. Active shoulder abduction was measured via two-dimensional frontal-plane analysis with Kinovea^®. Data analysis involved t-tests and Pearson correlations. Results showed that infants with Fidgety movements scored higher on fine motor tests than those with Writhing movements. Shoulder range of motion was slightly higher in infants with Writhing movements, but not significantly. No sex differences were found. Weak, nonsignificant correlations existed between shoulder range of motion and fine motor performance. The findings suggest movement quality, rather than limb mobility, is more connected to early motor function. Combining movement quality assessments with simple tests may improve early detection of subtle neuromotor issues and guide early stimulation strategies.

Aim: Early childhood caries (ECC) is a widespread and multifactorial oral disease that affects children globally. Parents’ knowledge, attitudes, and behaviors are crucial in preventing ECC and supporting oral health. This study evaluated Croatian parents’ understanding of children’s oral health, their awareness of ECC risk factors, and their oral hygiene practices. Materials and methods: A cross-sectional study was conducted using an anonymous and voluntary online questionnaire from October to December 2024 among 948 parents of children aged 1–7 years across Croatia. The study assessed parents’ knowledge of oral health, their understanding of the relationship between risk factors and early childhood caries, habits related to oral hygiene care, children’s experiences with oral health problems, parents’ self-assessment of their knowledge, as well as both their own and their children’s general and oral health and hygiene practices. Data were analyzed using descriptive statistics, Chi-square test, Mann–Whitney U test, and Kruskal–Wallis test. Results: Overall parental knowledge was moderate, with significantly higher scores among older parents, those with university education, healthcare workers, and families with higher incomes (p < 0.05). Parents demonstrated good awareness of the importance of supervising tooth brushing until age seven (93.8%) and fluoride use (81.8%); yet gaps persisted regarding bacterial transmission, tooth eruption, and early orthodontic evaluation. Preventive dental visits were frequently delayed, and only 25.0% of parents reported using interdental cleaning aids. Caries was the most common oral health issue among children (22.3%). Conclusions: Despite moderate awareness and some adherence to preventive measures, significant knowledge and practice gaps remain among Croatian parents. Targeted educational interventions and nationwide preventive strategies are necessary to strengthen oral health literacy and reduce ECC prevalence.