ABSTRACT This study investigated long‐term trends in the birth prevalence of cleft lip and/or cleft palate (CL/P) in central Japan and examined whether recent developments in prenatal diagnosis may be related to these trends. Annual questionnaire surveys were conducted for 42 years across maternity facilities in the prefectures of Aichi, Gifu, and Mie. Cases were categorized as cleft lip with or without cleft palate (CL ± P) or cleft palate only (CPO). Researchers calculated annual birth prevalence rates and used regression analyses to evaluate changes over time and possible influences such as maternal age, total live births, and survey coverage. The annual prevalence of CL/P ranged from 0.11% to 0.21%, with an average of 0.14%. CL ± P ranged from 0.06% to 0.16% (mean 0.11%), while CPO remained lower and more stable, ranging from 0.02% to 0.04% (mean 0.03%). CL ± P gradually increased until 2013 but declined from 2014 onward. In contrast, CPO showed no clear long‐term change. Statistical comparisons revealed that the average prevalence of CL ± P was significantly lower during 2014–2023 than during 1983–2013, whereas no significant difference was found for CPO. Multiple regression analyses indicated that the decline in CL ± P after 2014 remained significant even after adjusting for maternal age and survey coverage. The observed decline in CL ± P birth prevalence may be associated with changes in the prenatal diagnostic environment; however, the present data cannot establish a causal relationship, and survey coverage may also have influenced the observed trend.
ABSTRACT Physiological umbilical herniation and midgut return have traditionally been described within a rotation‐centered framework, but the process by which the herniated human midgut re‐enters the abdominal cavity remains incompletely explained. This review re‐evaluates midgut return using historical human specimens, three‐dimensional reconstructions, and recent morphologic analyses of intestinal loops, mesentery, vasculature, umbilical‐ring passage, and abdominal growth. The available evidence indicates that the herniated midgut is already organized before return, with reproducible secondary‐loop domains, a continuous mesentery, and an ordered superior mesenteric arterial framework. Transitional specimens show that return occurs over a definable developmental interval, with some segments already intra‐abdominal while others remain in the extraembryonic coelom. Local observations at the umbilical ring suggest that passage involves partial uncoiling and streamlining of the bowel–mesentery–vascular complex rather than en bloc reduction of a bulky intestinal mass, a configuration that may limit traction on the mesentery and vascular supply. These findings support a staged model of human midgut return in which pre‐organized bowel domains reintegrate progressively under local structural constraints. Classical rotation‐based terminology remains useful for describing final anatomy, but its developmental implications for the mechanics of return should be interpreted with caution in light of a staged and structurally constrained process.
ABSTRACT Multiple pterygium syndrome‐Escobar type is a congenital anomaly mostly characterized by the presence of webbing of the skin in major joints but includes a series of other anomalies including vertebral dysmorphisms that need surgical correction. This study aims to investigate the demographic features and the clinical findings of patients with multiple pterygium syndrome‐Escobar type. Nine patients with MPS were characterized with the demographic features and the clinical findings as well as the treatments applied and the outcomes, and the findings were discussed in light of the current knowledge. A detailed comparison of 9 MPS patients with different family backgrounds was hence aimed in this study. In a systematic view, dysmorphisms observed in the patients were named and listed for comparison besides other medical conditions they had. Surgical interventions and the results were indicated and discussed in light of the current knowledge. As a result of the vertebral surgical interventions performed in the current study for scoliosis, a mean 65% correction was provided. We did not observe any major complications following surgical treatments in the current patients.
Cleft lip and/or palate (CL/P) shows well-recognized sex differences, with a male predominance in cleft lip (CL) and cleft lip and palate (CLP), and a female predominance in isolated cleft palate (CP). However, how these differences vary according to detailed cleft patterns and extent remains unclear. This retrospective observational study included 4548 patients with CL/P treated at the cleft lip and palate center of Aichi-Gakuin University Dental Hospital between 1989 and 2024. Patients were classified using a detailed cleft pattern system. Sex differences were analyzed according to cleft type, laterality, and anatomical extent (complete vs. incomplete) using Chi-square tests. Overall, CL and CLP showed significant male predominance, whereas CP showed significant female predominance. In CL, males were significantly more frequent in incomplete clefts, while no sex difference was observed in complete clefts regardless of laterality. Cleft lip and alveolus showed no overall sex difference, although right-sided alveolar clefts were more common in males. In CP, females were significantly more prevalent, with a stronger female predominance in hard palate clefts than in soft palate clefts. CLP showed marked male predominance; bilateral clefts and incomplete clefts were more male-dominant than unilateral or complete clefts. Sex differences in CL/P vary substantially according to cleft type, detailed pattern, and extent. Male predominance is more evident in less severe CL and CLP, whereas female predominance in CP increases with cleft extent, underscoring the importance of detailed cleft classification in epidemiological and clinical analyses.
Fenofibrate is a fibric acid derivative used in the management of severe hypertriglyceridemia, a condition that may lead to serious maternal and fetal complications during pregnancy. However, evidence regarding the safety of fenofibrate exposure in pregnancy remains extremely limited, and the available human data are largely restricted to isolated case reports. The aim of this study was to evaluate pregnancy outcomes of women who consulted a university teratology information service (TIS) due to fenofibrate exposure during pregnancy. The data for this retrospective case series include consultation records and follow-up interviews of pregnant women who consulted the TIS at Marmara University Hospital due to fenofibrate exposure between 2012 and 2025. Eleven pregnancies with fenofibrate exposure were identified, and pregnancy outcomes were available for 10 pregnancies. Six pregnancies resulted in live births and four resulted in stillbirth. Due to one twin pregnancy, a total of 11 infants were recorded, including seven live-born and four stillborn infants. No major congenital malformations were identified among live-born infants. One child was reported to have been diagnosed with autism during follow-up. Although the proportion of stillbirths in this series appears higher than expected, most affected pregnancies were complicated by significant maternal comorbidities, including severe hypertriglyceridemia, diabetes mellitus, hypertension, and acute pancreatitis, which are known risk factors for adverse pregnancy outcomes. Therefore, the observed stillbirths may be related to underlying maternal disease rather than fenofibrate exposure. Overall, the findings of this case series do not suggest a clear teratogenic signal associated with maternal fenofibrate exposure during pregnancy.
