Mardini, Samir

Fibrous dysplasia (FD) is a benign bone neoplasm often considered a disease of childhood, with existing literature suggesting lesions typically become quiescent by young adulthood. Consequently, the presentations and surgical outcomes of adult patients remain poorly characterized. This retrospective review analyzed 50 adult patients treated surgically for craniofacial FD at a single institution between 1988 and 2024 to evaluate patterns of presentation, operative indications, and long-term outcomes. The cohort (54.0% male) had a mean follow-up of 15.8 years. Polyostotic involvement was present in 60.0% of patients, and the frontal bone was most affected (51.2%). The median age at presentation was 31 years, and the median age at initial surgery was 34.5 years. The most common surgical indications were visible growth (30.5%) and pain or headache (27.1%). Of the 59 surgeries performed to directly treat FD, bone contouring only was the most common initial operative approach (n=42), followed by en bloc resection and reconstruction (n=7). However, 12% of patients undergoing initial contouring required additional operations for continued growth. All secondary deformities requiring corrective surgery were ocular. In addition, several patients demonstrated delayed recurrence or progression decades after primary surgical intervention. These findings suggest that craniofacial FD may remain symptomatic or continue to progress into adulthood, challenging the traditional paradigm that these lesions necessarily become quiescent after skeletal maturity and highlighting the importance of long-term surveillance in the adult population.

Although complications of autologous bone flap cranioplasty are well described, data on long-term bone flap survival and the comorbidities associated with secondary reconstruction are limited. This study aimed to quantify the need for secondary alloplastic cranioplasty within a standardized patient cohort. Patients who underwent delayed cranioplasty following craniectomy with banked, frozen autologous bone between 2012 and 2025 were identified and analyzed using Cox regression, spline analysis, and Kaplan–Meier survival analysis. A total of 367 patients with an average age of 39.2±19.7 years (range: 0.3–84.4 years) at the time of cranioplasty were included. A secondary cranioplasty was required in 13.6% of patients (n=50 of 367), with resorption (52%) and infection (42%) as the most common indications. In adjusted analyses, patients who underwent cranioplasty following a traumatic injury (HR: 2.37; 95% CI: 1.07–5.26; P =0.03) and patients younger than 18 years (HR: 2.99; 95% CI: 1.35–6.62; P =0.01) were more likely to require a secondary cranioplasty due to bone flap resorption. Increasing defect size was also associated with a higher risk of secondary cranioplasty due to bone flap resorption, becoming significant at roughly 95 cm² (HR: 2.54; 95% CI: 1.04–6.20; P =0.04). The estimated cumulative incidence of secondary cranioplasty was 37% at ten years after autologous reconstruction. These results indicate that although autologous bone flap cranioplasty is largely effective, select patients face a substantially higher risk of secondary cranioplasty, and alternative reconstructive options may be warranted.

Biparietal osteodystrophy, also known as bilateral parietal calvarium bone thinning, is a rare calvarial condition characterized by loss of diploic bone within the parietal region. Although historically described in anthropologic and radiologic literature, current understanding of its epidemiology, pathogenesis, clinical relevance, and management remains fragmented. This review synthesizes current evidence and highlights emerging studies on biparietal osteodystrophy. Epidemiologic reports indicate that biparietal osteodystrophy affects a broad age range but appears most frequently in older adults, with several series suggesting a slight female predominance. Prevalence is difficult to estimate due to incidental detection, though modern imaging has increased recognition of the condition. Histologically and anatomically, biparietal osteodystrophy is marked by thinning of the outer table and loss of the diploic space, with little osteoblastic or osteoclastic remodeling. Proposed pathogenic mechanisms include chronic degenerative change, impaired vascular supply to the diploë, and other theories, although no single explanation fully accounts for its complete presentation. Clinically, most patients remain asymptomatic, with complications such as calvarial fractures and traumatic brain injury being rare but highlighting the structural vulnerability associated with severe thinning. Management strategies are not standardized, and the use of anti-osteoporotic drugs and cranioplasty has been reported to offer benefit in select cases, although no treatment has been formally validated for biparietal osteodystrophy. As the understanding of biparietal osteodystrophy continues to evolve, future research is needed to clarify its natural history, identify potential etiologic pathways, and establish evidence-based management guidelines.

Objective To evaluate cancer risk in individuals with cleft lip and/or cleft palate (CL/P). Design Retrospective chart review of patients with CL/P, including abstraction of information on cancer diagnoses was conducted. Cancer risk was compared with national population-based estimates using standardized incidence ratios (SIRs) and exact binomial tests. Subgroup analyses compared demographic and clinical characteristics between patients with and without cancer. Setting Study was performed at a single tertiary academic center with multidisciplinary surgical, pediatric, and genetic care. Patients/Participants Total of 2121 patients with CL/P from 1970 to 2024 with complete medical documentation were included. Main Outcome Measures Main outcomes included prevalence of cancer diagnoses, childhood cancer incidence, and differences in cancer occurrence by age, cleft type, syndromic status, and family history. Results Total of 144 patients (6.8%) had pathologically confirmed cancer diagnoses. Twelve childhood cancers were identified, with 10 cases presenting before age 15. Children younger than 15 with CL/P had a significantly elevated cancer risk (SIR 4.7; 95% confidence interval: 1.8-7.6; P < .00001). Pediatric cancers occurred mainly in syndromic cases. Cancer prevalence was higher in cleft palate only and cleft lip/palate cases compared with cleft lip only ( P < .05). Cancer occurrence was not higher in adults with CL/P compared to the general population. Conclusions Cancer risk is not uniformly elevated over the lifespan in individuals with CL/P. Increased cancer risk is observed in our pediatric cohort. Clinical care should include careful assessment of childhood cancers, syndromic features, and family history, with consideration for genetic counseling and multidisciplinary follow-up.

Objective We sought to characterize factors associated with postoperative complications in patients undergoing primary cleft lip repair (CLR). Design The National Surgical Quality Improvement Program-Pediatric database was queried to identify patients under 12 months old undergoing CLR using CPT codes. Multivariable analysis was conducted to characterize complications and associated comorbidities. Setting A multicenter sample. Patients/Participants A total of 11 957 cases (81.9% unilateral CLR and 18.1% bilateral CLR) were identified. Interventions None. Main Outcomes/Measures The postoperative outcomes of significance were surgical site infection (SSI), wound dehiscence, and unplanned reintubation within 30 days of CLR. Results The cohort had a mean age of 4.7 ± 2.0 months and a median American Society of Anesthesiologists classification of 2. SSIs occurred in 0.6% of cases and were independently associated with bilateral cleft anatomy (OR 2.16, P = .003) and longer anesthesia time (OR per minute: 1.004, P = .009). Wound dehiscence occurred in 0.4% of patients and was independently associated with bilateral cleft anatomy (OR 4.03, P < .001) but was associated with shorter anesthesia duration (OR per minute: 0.991, P < .001). Unplanned reintubation occurred in 0.2% of cases, with these patients having significantly higher rates of multiple comorbidities. Conclusion Wound dehiscence, SSI, and unplanned reintubation were rare complications following CLR. Patients with a bilateral cleft lip had increased odds of both SSI and wound dehiscence.

Introduction: Congenital preauricular lesions, including skin tags, accessory tragi, and pits, have long been associated with renal anomalies due to their shared embryologic origin. Despite the common practice of recommending routine renal ultrasound screening for these patients, the necessity of this protocol has not been conclusively validated. Methods: A retrospective review was conducted at a single institution from 1996 to 2025. A total of 109 patients presenting with congenital preauricular lesions were identified. Data extracted included demographics, comorbidities, syndromic status, hearing assessments, external ear abnormalities, and renal imaging findings. Statistical analyses (chi-square, Fisher's exact test, and one-sample proportion z-tests) were employed to evaluate the prevalence of renal anomalies compared to the general population and explore associations with other clinical factors. Results: Of the 109 patients with congenital preauricular lesions, 69 underwent renal imaging, and 34.8% (24/69) were found to have abnormal findings, significantly higher ( P = .0011) than the estimated 1.5% prevalence among the general US population. Hydronephrosis was the most frequent abnormality, while no significant differences emerged across syndromic versus nonsyndromic patients, external ear anomalies, or documented hearing loss. Conclusion: These findings indicate a higher-than-expected rate of renal pathology in patients with congenital preauricular lesions and support a low threshold for imaging regardless of syndromic status or other risk factors. Prospective research is needed to further refine screening recommendations.

Objective This study aimed to identify specific causes, clinical features, and contributing factors associated with early childhood mortality in a vulnerable subset of patients with cleft lip and/or palate (CL/P) who did not survive to undergo surgical repair. Design This was a retrospective chart review study. Setting The study was conducted at a single tertiary medical center. Patients/Participants We identified 26 liveborn CL/P patients who died without cleft repair from 1970 to 2024. Their data was compared to a control group of 2070 surgically repaired CL/P patients from the same institution. Main Outcome Measures Our primary goal was to characterize the clinical profile of patients experiencing prerepair mortality. Secondary outcomes included identifying causes of death, maternal and prenatal risk factors, and comparing these findings with the surgically repaired patients. Results All 26 unrepaired patients (100%) had genetic syndromes or isolated severe congenital anomalies, a significant difference compared to 24% in the surgically repaired group ( P < .0001). Trisomy 13 (30.8%), holoprosencephaly (23.1%), congenital cardiac defects (11.5%), and trisomy 18 (11.5%) were the leading causes of death. The median age at death for unrepaired patients was 25 days (interquartile range 4-125 days), significantly lower than the 61.9 years in the control group ( P < .0001). Multivariable logistic regression showed that genetic syndromes or severe congenital anomalies were strongly associated with early mortality ( P < .0001). Notably, all unrepaired patients who were born in the United States after 2005 had accurate prenatal diagnoses, which allowed clinical planning before the patients were born. Conclusions Prerepair mortality in CL/P is significantly driven by underlying genetic syndromes or congenital anomalies. For surgeons, this highlights the importance of genetic testing and prenatal care to guide appropriate surgical management. Considering a wait in surgical intervention until patients are approximately 4 months old may allow for better survival assessment and informed decisions for these high-risk individuals.

Objective: To characterize pediatric patients experiencing unplanned intraoperative extubation (UIE) during cleft lip (CL) and cleft palate (CP) repair and assess postoperative outcomes. Design: Retrospective cohort study using the 2019–2023 National Surgical Quality Improvement Program–Pediatric database. Setting: Multicenter surgical registry of pediatric operations. Patients: Children undergoing CL repair (<1 year) or CP repair (<3 years). Interventions: Not applicable. Main Outcome Measure(s): Incidence of UIE, demographic and operative characteristics, and 30-day postoperative complications. Results: Among 17 047 cases, UIE occurred in 0.37% of CL repairs and 0.20% of CP repairs. Patients who experienced UIE had similar baseline characteristics to those without UIE but demonstrated significantly longer operative and anesthesia times for both procedures. Despite these intraoperative events, no cases of death, pneumonia, or unplanned reintubation occurred postoperatively, and overall 30-day complication rates remained low. Conclusions: UIE during CL and CP repair is rare and not associated with major postoperative complications.

Cranioplasty is a critical reconstructive procedure, with research focused on many different areas. Despite this variety, there is a lack of research analyzing the most impactful studies on cranioplasty. The authors conducted a comprehensive search of the Web of Science (WoS) Core Collection for studies on cranioplasty and selected the top 100 articles by citation count. Bibliometric data, study design, materials used, and study sample sizes were extracted. Spearman correlation tests and Kruskal-Wallis tests were conducted to analyze citation patterns. The top 100 cranioplasty studies, published between 1979 and 2020, were cited an average of 136.7 ± 65.1 times. The majority of studies (n = 68) were classified as clinical, while 21 were reviews and 11 were basic science. Most clinical studies were single-center (92.6%), while 7.4% were multicenter studies. Excluding case reports (n = 7), the median sample size in clinical studies was 70 patients (IQR: 25–147). Studies with larger sample sizes received more citations per year on average (rho = 0.44, P < 0.001), and more recent studies tended to use larger sample sizes (rho = 0.37, P = 0.002). Over half (52.3%) of clinical studies included patients who had reconstruction with autologous bone, followed by titanium (32.3%), polymethylmethacrylate (PMMA) (29.2%), hydroxyapatite (12.3%), and polyetheretherketone (9.3%). These findings demonstrate that the most impactful studies on cranioplasty are predominantly single-center investigations, most with <100 patients, yet have significantly shaped the field.

Background: Variable terminology is used in the literature to describe facial synkinesis and hypertonicity following incomplete recovery from facial paralysis and its associated medical and surgical treatments. Study Objectives: Establish a nomenclature consensus for this condition among a group of facial nerve experts. Design Type: Consensus study. Methods: Using modified Delphi methodology, an international, multidisciplinary group of facial nerve experts reviewed the terminology for the name of the clinical condition and treatments of interest. Online surveys and a virtual discussion were performed to establish consensus, defined a priori as agreement by 80% of the group. Results: Twenty-five facial nerve experts established consensus after three Delphi rounds. Consensus terminology for the condition is “facial synkinesis” with 84% agreement. Medical treatment is termed “chemodenervation” with 100% agreement. Surgical treatments including “selective facial neurectomy,” “selective facial neurotomy,” “selective facial myectomy,” and “selective facial myotomy,” were defined and reached agreement of 100%. Conclusions: This international group of facial nerve experts has recommended standardized nomenclature for the condition of facial synkinesis and its various treatments. While “facial synkinesis” reached consensus as the preferred term, some experts noted it may insufficiently describe the full clinical spectrum, which includes muscle hypertonicity, weakness, and spontaneous twitching.