ABSTRACT Hemifacial microsomia (HFM) is characterized by mandibular hypoplasia with complex three‐dimensional (3D) craniofacial deformities. Conventional classification systems are mainly based on two‐dimensional morphology and provide limited information on the regional distribution of mandibular deficiency. This study aimed to develop a novel 3D volumetric classification method using anatomically and biologically relevant reference planes.3D mandibular models were reconstructed from craniofacial computed tomography data using Aquarius Net software. Plane A was defined by the mental protuberance and the most lateral prominent points of the bilateral mandibular angles, and the coordinate system was standardized by rigid transformation so that Plane A became parallel to the horizontal CT plane. Plane B, defined by the origins of the external and internal oblique lines, isolated the posterior mandibular ramus (Region T). Additional planes (C–F), based on landmarks including the condyle, mandibular angle, mandibular foramen, and mandibular notch, subdivided Region T into four subregions ( r + 1 to r + 4). Volumetric ratios were compared between seven unilateral HFM patients and seven controls with symmetrical mandibles. Intraobserver reliability was assessed using intraclass correlation coefficients (ICC [1, 1]). Exploratory volumetric analysis suggested greater volume reduction in the superior ramus region, including the mandibular condyle; however, no between‐group differences remained statistically significant after Bonferroni correction for the five regional comparisons. Intraobserver reliability was excellent, with ICC values ranging from 0.9601 to 0.9960 in the HFM group. This 3D volumetric classification system enables region‐specific assessment of mandibular hypoplasia in HFM and may support surgical planning and evaluation.
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 Van der Woude syndrome (VWS) is a common syndromic cause of orofacial clefting, yet comprehensive phenotypic data in Asian populations remain limited. This retrospective study delineated the clinical characteristics and anatomical severity of VWS patients managed at Aichi Gakuin University Dental Hospital, Japan (April 1989–September 2026). Among 5528 cleft patients, 22 VWS cases were identified. The cohort demonstrated a female predilection (59.1%) and a high proportion of patients without a documented family history of orofacial clefts or lip pits (59.1%). Pathognomonic lower lip pits were highly prevalent (86.4%) and predominantly bilateral (59.1%). Cleft lip and palate (CLP) was the most frequent phenotype (59.1%), followed by cleft lip and alveolus (22.7%), submucous cleft palate (SMCP) (13.6%), and cleft lip (4.5%). All 19 overt clefts were complete. Notably, Lip‐Alveolar‐Palate (L‐A‐P) anatomical mapping revealed eight distinct morphological patterns, with bilateral complete CLP emerging as the most prevalent structural model (22.7%). This study highlights the phenotypic variability and anatomical severity of VWS among Japanese patients treated for orofacial clefts, marked by a skew toward complete CLP and an absence of overt cleft palate. Recognizing this spectrum, including subtle manifestations such as SMCP, is important for accurate diagnosis and genetic counseling, and multicenter studies with genetic testing are needed to define the full range of VWS phenotypes in Asian populations.
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.
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.
