アペール症候群

BackgroundSyndromic midface hypoplasia often includes a high or fragile palate that is vulnerable during midfacial disimpaction.SolutionWe created a patient-specific palatal protection plate produced through a fully digital workflow to stabilize and protect the palate.What we didAfter using conventional plates from 2022 to 2024, we implemented a digital design and printing workflow in 2025 and added suction-catheter sleeves to the Rowe forceps branches to improve retention.

BACKGROUND AND PURPOSE: As the endolymphatic (ES) undergoes normal postnatal maturation, the surrounding vestibular aqueduct (VA) undergoes a corresponding change in morphology, quantified by its angular trajectory (ATVA). In adult temporal bones with Meniere's disease (MD), a fetal orientation ATVA (≥140°) indicates underlying ES hypoplasia and defines the so called hypoplastic disease endotype (MD-hp). However, ES hypoplasia has also been described histologically in other inner ear syndromes and congenital conditions, independent of MD. We aimed to investigate whether ATVA ≥140° occurs in mature temporal bones beyond its established association with the MD-hp endotype. MATERIALS AND METHODS: Retrospective retrieval of CT scans performed on patients over age 12 years at Massachusetts Eye and Ear between January 2016 and December 2024 was conducted, with search terms encompassing diseases previously described to be associated with temporal bone anomalies. CT studies that did not allow adequate assessment of the VA were excluded. Two neuroradiologists blinded to clinical information independently performed ATVA measurements, with consensus interpretation rendered for disagreements in ATVA categories (adult, intermediate, or fetal orientation). RESULTS: 103 patients with congenital temporal bone anomalies were identified. 98 patients (190 ears) met inclusion criteria. Fetal VA orientation (ATVA ≥140°) was identified in 8 ears from 6 patients. Intermediate VA orientation (ATVA 121°-139°) was identified in 19 ears from 15 patients. Among 8 patients with branchio-oto-renal (BOR) syndrome, 2 patients had bilateral fetal orientation ATVA and 2 patients had mixed fetal/intermediate orientation ATVA. Among 11 patients with trisomy 21, 5 demonstrated unilateral abnormal ATVA. Higher than 120° ATVA values were also observed in CHARGE syndrome, Apert syndrome, and Chiari I malformation. Review of clinical records did not show a diagnosis of MD within our cohort. CONCLUSIONS: Fetal and intermediate ATVA orientations were observed in several congenital temporal bone anomalies without documented MD. These findings further support that abnormal ATVA reflects altered VA/ES developmental morphology and is not exclusive to the MD-hp endotype. Accordingly, fetal orientation ATVA should be interpreted within the broader clinical and radiologic context, particularly in the presence of additional congenital abnormalities.

BACKGROUND: Apert syndrome is a rare congenital malformation caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Characteristic imaging findings include bilateral premature closure of the coronal suture, midfacial hypoplasia, and symmetrical syndactyly of the fingers and toes. These features may be accompanied by lateral ventricle dilation, absence of the corpus callosum, cervical vertebral fusion, and other anomalies. However, in the second trimester, syndactyly and extracranial anomalies may be the only detectable signs, which complicate early diagnosis. The purpose of this study is to improve the early diagnosis rate of Apert syndrome. CASE DESCRIPTION: We report an atypical case of Apert syndrome carrying the FGFR2 S252W mutation, which typically associated with severe cranial deformities and cleft palate, but prenatal ultrasound at 23 weeks revealed symmetrical syndactyly of both hands and feet and a sacrococcygeal soft tissue mass resembling a "tail" without cranial abnormalities. Although prior studies have linked this mutation to advanced paternal age, the father in this case was 25 years old, which does not align with this association. CONCLUSIONS: This case demonstrated that Apert syndrome may present prenatally features other than cranial abnormalities. A practical screening strategy should therefore combine detailed second-trimester ultrasound evaluation of extremities and cardiac structures with prenatal genetic testing, even in the absence of cranial abnormalities.

BACKGROUND: Patients with Apert syndrome frequently experience breathing problems alongside characteristic malformations. The relatively under-investigated Apert mandible position, development, and morphology may be implicated. Three-dimensional morphable models (3DMMs) can represent, quantitatively analyze, and identify parameters for shape of similar, 3-dimensional, biological objects. This study aims to develop an Apert mandible 3DMM, investigate effects of age, sex, and genetic mutation on Apert mandibular shape, characterize Apert mandibular growth by age. METHODS: High-quality Apert head computerized tomography (CT) scans without previous mandibular surgery, taken 1987 to 2020 were sourced from 2 European pediatric specialist hospitals. Two Apert mandible 3DMMs were constructed from the scans using a standardized pipeline: a size and shape version, and a shape-only version. Subgroup analyses included ages 0 to 4 and 11 to 17 years. RESULTS: Two hundred thirty-eight Apert CT scans, from 103 patients aged 0.1 to 23.2 years, were used to develop 2 Apert mandible 3DMMs. All groups in both models showed no patterns for sex or genetic mutation (Ser252Trp or Pro253Arg) in t-Distributed Stochastic Neighbour embedding and true age was significantly positively correlated with model-predicted age (r=0.45-0.94, P<0.05). First principal component visualization of the Apert mandible 3DMMs suggested macroscopic shape differences compared with the healthy mandible. CONCLUSIONS: Apert mandible 3DMMs were successfully constructed and characterized for growth by age. The Apert mandible 3DMMs suggested macroscopic shape differences but no variation in shape according to sex or genetic mutation. Further research will quantify Apert and healthy mandible shape differences. Apert 3DMMs have potential for used in automated diagnosis of Apert syndrome and personalized surgical planning.