Apert syndrome: neurosurgical outcomes and complications following posterior vault distraction osteogenesis.

PURPOSE: Posterior vault distraction osteogenesis (PVDO) has been utilized during the past 15 years to treat a variety of clinical features commonly presented by patients with Apert syndrome. The objective of this study is to determine the efficacy of PVDO in addressing both elevated intracranial pressure (ICP) and ectopia of the cerebellar tonsils (ECT) in young Apert patients. In addition, we aimed to determine the prevalence of hydrocephalus in Apert syndrome patients who underwent PVDO. METHODS: A retrospective study was made with a cohort of 40 consecutive patients with syndromic craniosynostosis (SC), previously diagnosed with Apert syndrome, who underwent PVDO between 2012 and 2022, and thereafter received at least 1 year of follow-up care. Demographic data and diagnosis, along with surgical and outcome data, were verified using medical records, clinical photographs, radiologic examination, and interviews with the parents of all cohort patients. RESULTS: The average patient age when PVDO was performed was 12.91 ± 10 months. The average posterior advancement distance achieved per patient was 22.68 ± 5.26 mm. The average hospital stay per patient was 3.56 ± 2.44 days. The average absolute and relative blood transfusion volumes were 98.47 ml and 17.63 ml/kg, respectively. Although five patients (14%) presented ECT preoperatively, this condition was completely resolved by PVDO in three of these five patients. One of the three patients whose ECT had completely resolved presented syringomyelia postoperatively, requiring subsequent extra dural foramen magnum decompression. All of the remaining four patients were asymptomatic for ECT for at least 1 year of follow-up, and none of these four patients required any additional treatments to address ECT. Two patients presented hydrocephalus requiring ventriculoperitoneal shunt placement. CONCLUSIONS: This study demonstrates that PVDO both reduces diagnosed elevated ICP symptoms and is partially effective in treating ECT in Apert syndrome patients. Hydrocephalus in Apert syndrome is an uncommon feature. The effectiveness of PVDO in addressing hydrocephalus is uncertain.

Treatment of Velopharyngeal Insufficiency Using Bilateral Myomucosal Buccinator Flaps.

SUMMARY: The buccinator myomucosal flap, also referred to as a buccal myomucosal flap, is an effective technique to address velopharyngeal insufficiency after cleft palate repair. Challenges related to flap harvesting may deter plastic surgeons from incorporating this strategy as a first-line treatment. The primary objective of this study and accompanying video is to provide support regarding indications, planning, and surgical steps of the buccinator myomucosal flap technique, including important technical details for soft-palate dissection and flap harvesting.

Apert Syndrome: Selection Rationale for Midface Advancement Technique.

Apert syndrome is characterized by a wide spectrum of craniofacial clinical features that have been successfully addressed via a variety of midface advancement techniques. Although surgeons have individual preferences as to which specific procedures should be performed to best treat Apert patients, craniofacial plastic surgeons, working in tandem with pediatric neurosurgeons, can identify and evaluate functional limitations and facial morphologic disproportions, and establish appropriate criteria for effective midface advancement technique indication and selection. The purpose of this review article is to present and discuss our rationale for midface advancement technique selection based upon the most common craniofacial characteristics presented by Apert syndrome patients. The present article also provides a grading system that stratifies as major, moderate, and mild, the effect of each midface advancement technique on the different types of Apert syndrome facial features. Surgeons should take into consideration the maximum effect and benefit of each craniofacial osteotomy and how these procedures will alter the craniofacial skeleton. By understanding the long-term effect of each osteotomy on the most common craniofacial characteristics of Apert syndrome patients, craniofacial plastic surgeons and neurosurgeons will be able to customize the surgical procedures they perform in order to achieve the best possible outcomes.

Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.

BACKGROUND: In this study, the authors present the outcomes of 4 patients with a severe form of Crouzon syndrome characterized by mutation of fibroblast growth factor receptor 2 (FGFR2) c.1040 C > G p.Ser347Cys or the pathogenic c.1061C > G p.Ser354Cys variant of FGFR2, who underwent posterior vault distraction osteogenesis (PVDO) to alleviate elevated intracranial pressure. METHODS: Patients with diagnosed Crouzon syndrome who were found by genetic testing to have an FGFR2 c.1040 C > G p.Ser347Cys mutation or the c.1061C > G p.Ser354Cys variant were included. Outcome data and presence of hydrocephalus, Chiari Malformation type I (CMIs), and the presence/absence of a tracheostomy were recorded. RESULTS: Three patients with the FGFR2 c.1040 C > G p.Ser347Cys mutation and 1 with the pathogenic FGFR2 c.1061C > G p.Ser354Cys variant were identified as having characteristics of severe Crouzon syndrome. The mean age at PVDO was 15 months and the mean posterior advancement was 20 mm. All 4 patients experienced sufficient relief of the elevated intracranial pressure from the PVDO to prevent the need for shunt placement, stabilize the ventricular dimensions (n = 2), and resolve the CMIs (n = 2). Intracranial pressure screening ruled out malignant cerebrospinal fluid volume increase. CONCLUSIONS: PVDO effectively prevented hydrocephalus and resolved CMIs, successfully alleviating intracranial pressure and maximizing clinical outcomes for patients with severe Crouzon syndrome.

Apert Syndrome Outcomes: Comparison of Posterior Vault Distraction Osteogenesis Versus Fronto Orbital Advancement.

BACKGROUND: Presenting a wide clinical spectrum and large variety of clinical features, successful treatment of Apert syndrome necessitates performance of sequential multiple surgeries before a patient's facial skeleton growth is complete.The objective of this study is to compare forehead contour asymmetry and clinical outcomes between Apert patients who underwent either fronto-orbital advancement (FOA) or posterior vault distraction osteogenesis (PVDO). METHODS: A retrospective study was performed on consecutive patients with Apert syndrome who underwent either FOA or PVDO between 2007 and 2019, and participated in at least 6 months of follow-up care. Forehead contour asymmetry and surgical outcomes for each of the included patients were verified through medical records, clinical photographs, and interviews with the parents of the patients. The need for additional craniofacial procedures based on the surgical outcomes of each patient was graded from I to IV utilizing the Whitaker outcome classification system. RESULTS: Forehead contour asymmetry for all included patients was rated under the Whitaker grading scale as type II (n = 4) 44.4%, type III (n = 2) 22.2%, and type IV (n = 3) 33.3% for FOA, and type I (n = 5) 35.7%, type II (n = 7) 50%, and type III (n = 2) 14.3%, for PVDO (P < 0.05). The average transfused blood volume was 47.77 ±â€Š9.42 mL/kg for patients who underwent FOA, and 22.75 ±â€Š10.31 mL/kg for patients who underwent PVDO (P < 0.05). CONCLUSIONS: Patients who underwent PVDO had lower forehead contour asymmetry as per the Whitaker outcome grading scale than patients who underwent FOA.

Functionality Assessment of Patients With Cleft Hands.

BACKGROUND: Ectrodactyly, commonly referred to as cleft hand, is a rare pathology characterized by a deficiency and/or complete absence of the central ray in each hand. In order to customize treatment and improve the patient's quality of life, a more detailed functional evaluation is required. Although several studies evaluate functionality in different types of cleft hands, there are only a few studies that show self-reported evaluations. The objective of this study is to assess the hand function of cleft hand patients. METHODS: An observational retrospective study was performed on 12 cleft hand patients who were treated between 2008 and 2018. There were 8 male patients and 4 female patients. Patients were divided into 2 groups according to their ages: (Group 1) 6 patients between 1 and 7 years of age, and (Group 2) 6 patients between 8 and 18 years of age, respectively. Each group was sub-stratified into 5 subgroups according to the classification system created by Manske and Halikis. RESULTS: Regardless of age, intragroup hand type comparisons within Groups 1 and 2 did not demonstrate statistically significant differences (P > 0.05) between hand outcomes according to Manske and Halikis classification. Comparison between cleft hand patients and their age matched controls demonstrated statistically significant differences (P < 0.05), as the patients in the control group had higher outcome scores. CONCLUSIONS: Regardless of cleft hand type and patient age, patients with cleft hands experience impaired hand function and present lower outcome scores in comparison to their age matched controls.

Treating Syndromic Craniosynostosis with Monobloc Facial Bipartition and Internal Distractor Devices: Destigmatizing the Syndromic Face.

Monobloc and facial bipartition combined with distraction osteogenesis (MFBDO) has gained popularity over the past several years as a treatment of syndromic craniosynostosis, in part because this surgical technique effectively removes many stigmatic clinical features associated with the syndromic face. The objective of this study is to detail the surgical planning used to achieve medialization of the orbits and describe the authors' experience using MFBDO to destigmatize the syndromic face. By using MFBDO, hypertelorism, vertical orbital dystopia, and downslanting of the palpebral fissure were surgically corrected in all patients, thereby destigmatizing the syndromic face.

Syndrome-related outcomes following posterior vault distraction osteogenesis.

PURPOSE: The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome-related outcomes following the posterior vault distraction osteogenesis (PVDO) procedure, as well as data addressing whether or not additional procedures will be subsequently necessary to comprehensively treat children who undergo PVDO. Thus, the objective of this study is to describe and compare syndrome-related potential complications and outcomes associated with the PVDO procedure. METHODS: An observational retrospective study was performed on consecutive patients (n=24) with Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, or Saethre-Chotzen syndrome, respectively, who underwent PVDO between 2012 and 2019. Demographic data (patient gender and age when the PVDO procedure was performed), diagnosis, surgery-related data, and outcome data (perioperative and midterm complications and need for additional surgery) were verified. RESULTS: Total relative blood transfusion volumes per kilogram for the patients were as follows: 22.75 ± 9.30 ml for Apert syndrome, 10.73 ± 2.28 ml for Crouzon syndrome (Apert versus Crouzon, p<0.05), 18.53 ± 8.08 ml for Pfeiffer syndrome, and 19.74 ± 9.12 ml for Saethre-Chotzen syndrome. None of the patients required a secondary procedure to alleviate intracranial pressure except for a Saethre-Chotzen patient. CONCLUSION: PVDO is an effective technique to address elevated intracranial pressure in SC patients that alleviates the need for secondary procedures at midterm follow-up. Apert syndrome patients presented relatively higher total blood transfusion rates than Crouzon syndrome patients who were operated on at a later age and weighed more.

Craniofrontonasal dysplasia: hypertelorism correction in late presenting patients.

BACKGROUND: Craniofrontonasal dysplasia (CFND) is a rare congenital craniofacial syndrome characterized by single suture synostosis, hypertelorism, other clinical facial features, and abnormalities in the upper extremities. There are only a few studies in the applicable literature that address hypertelorism management for CFND patients and outcomes and complication rates. METHODS: A retrospective study was performed on consecutive late presenting CFND patients referred to our hospital with substantially completed craniofacial skeleton growth, who underwent hypertelorism correction between 2007 and 2019 following intracranial pressure screening, and who received at least 1 year of follow-up care. None of the patients in this study underwent prior craniofacial surgery. Only those patients with a confirmed mutation of the EFNB1 gene were included in this study. All patients in this study underwent hypertelorism correction by facial bipartition or box osteotomy. RESULTS: A total of ten late presenting CFND patients (all female) were treated at our hospital during the study period. None of the patients presented signs of elevated intracranial pressure. The average patient age at hypertelorism correction was 13.4 ± 7.68 years of age. Major complications, defined as complications requiring a return to the operating room, were limited to infection of the frontal bone, which required partial bone removal, and cerebrospinal fluid (CSF) leak, which was completely resolved by insertion of a lumbar shunt for a 7-day period. CONCLUSION: The absence of elevated intracranial pressure enables hypertelorism correction in late presenting CFND patients via facial bipartition or box osteotomy without the need for additional operations that provide for cranial expansion.

An Extended 45-year Long-term Follow-up on a 1-13 Rare Facial Cleft Patient.

ABSTRACT: We present here the unique case of a patient with a Tessier 1-13 rare facial cleft accompanied by cleft lip and palate and Tessier grade 2 hypertelorism. The patient described in this article has a twin brother who shares a number of genetic traits and physical features but does not present facial cleft or hypertelorism. The 45-year follow-up in this case is believed to be the longest follow-up to date to have been reported in the literature, and sheds significant light on the importance of extended longitudinal follow-up to maximize patient outcomes.

Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.

Crouzon syndrome is a rare form of syndromic craniosynostosis (SC) characterized by premature fusion of the cranial and facial sutures, elevated intracranial pressure, varying degrees of ocular exposure due to exorbitism, and airway compromise caused by midface retrusion. Craniolacunae and upper and lower extremity anomalies are not frequently found in Crouzon syndrome. We present a girl with Crouzon syndrome caused by c.1040 C > G, p.Ser347Cys, a pathogenic mutation in the FGFR2 gene with atypical characteristics, including craniolacunae resembling severe Swiss cheese type of bone formation, and upper and lower extremity anomalies which are more commonly associated with Pfeiffer syndrome patients. Distinguishing between severe Crouzon syndrome patients and patients who have mild and/or moderate Pfeiffer syndrome can be challenging even for an experienced craniofacial surgeon. An accurate genotype diagnosis is essential to distinguishing between these syndromes, as it provides predictors for neurosurgical complications and facilitates appropriate family counseling related to long-term outcomes.

Long-Term Morphologic Changes on Sagittal Synostosis Patients Who Underwent a Modified Pi Technique.

BACKGROUND: There are paucity of studies focused on the long-term assessment of the craniofacial changes after a pi-plasty procedure and self-reported quality of life outcomes. Thus, this study aimed to assess long-term morphologic changes and quality of life of patients with sagittal synostosis who underwent surgery with a modified pi-plasty. METHODS: Consecutive patients with sagittal synostosis who underwent surgery and had more than 5 years of follow-up and standard preoperative and 1, 3, and 5 years right profile view photographs were included. Nasofrontal angle and angle of total facial convexity were evaluated using computerized photogrammetric measurements. Additionally, quality of life outcome was evaluated by the Quality of Life Scale Short Form. RESULTS: The total facial convexity angle and nasofrontal angle increased significantly (P < 0.05), with a P-value of 0.013 and 0.012, respectively. Patients had quality of life scores >80 in all of the 4 domains, with the highest scores being: physical health domain 80.0 ±â€Š0, psychologic domain 85.0 ±â€Š5, social relationships domain 86.6 ± 0, and environmental domain 98.13 ±â€Š2.42. CONCLUSION: Facial angles significantly changed over 5 years of follow-up. Self-reported quality of life instrument showed that patients are satisfied with their own appearance, contributing positively to their quality of life.

Roberts Syndrome With a Bilateral Cleft Lip and Palate.

ABSTRACT: Roberts syndrome (RBS) is a rare craniofacial anomaly associated with tetraphocomelia, growth and mental retardation, cardiac and renal abnormalities. The RBS is caused by homozygous mutation in the ESCO2 gene on chromosome 8p21. In this report, the authors describe a 5-year-old female infant with RBS and bilateral cleft lip and cleft palate, an extremely rare condition.

Apert Hand Reconstruction: Do Partial-Thickness Skin Grafts Result in Flexion Scar Contracture?

BACKGROUND: Hand reconstruction for patients with Apert syndrome is a critical step in comprehensive care and enables this population to gain significant hand function. Digit separation for Apert syndrome, as described in most algorithms, is finalized using local flaps and full-thickness skin grafts. The objective of this study is to report our experience using local flaps and partial-thickness skin grafts after digit separation for Apert hand reconstruction. METHODS: An observational retrospective study was performed with Apert patients whose hands were reconstructed between January 2007 and July 2019 using local flaps and partial-thickness skin grafts after digit separation. Demographic data and outcome data were verified and recorded. RESULTS: Out of a total of 75 Apert patients who underwent hand reconstruction, 12 underwent hand reconstruction utilizing local flaps and partial-thickness skin grafts. The average patient age at the time of the first procedure was 1.9 years. These 12 patients were stratified according to Upton hand severity, 3 being type I (25%), 3 being type II (25%) and 6 being type III (50%). Mean follow up provided to all patients in this study was 1.8 years and donor site-related complications were seen in 2 patients (16.6%). No flexion scar contracture was observed in any of the patients who received partial-thickness skin grafts. CONCLUSIONS: The use of local flaps along with partial-thickness skin grafts to finalize digit separation for patients with Apert syndrome is an effective technique that reduces donor site morbidity and does not result in flexion scar contracture.

Pfeiffer Syndrome: A Therapeutic Algorithm Based on a Modified Grading Scale.

BACKGROUND: Pfeiffer syndrome (PS) is a very rare condition with a wide clinical spectrum. There are only a few studies that address the classification and treatment of PS and take into account the most commonly presented clinical features. Thus, the objectives of this study are to propose an algorithm for PS management based on a modified severity scale and correlate PS severity with tracheostomy placement. METHODS: An observational retrospective study was performed on consecutive patients with PS (n = 12), who underwent surgery between 2008 and 2018. Clinical features and findings of all included patients with PS were classified as types A, B, and C, which guided treatment workflow. The Fisher test was used to correlate the severity of patients with PS with tracheostomy placement. RESULTS: There were 12 patients, classified as type A (n = 3), type B (n = 6), and type C (n = 3). All patients who received tracheostomies (n = 6) were stratified into the severe category (n = 9; types B and C) (P < 0.05). There were 4 minor complications, and 1 major complication according to a modified Clavien-Dindo surgical complication scale. CONCLUSION: A treatment algorithm based on the 3 different Pfeiffer types was proposed. Severity of PS statistically correlates to tracheostomy placement.

Late Primary Palatoplasty in Skeletally Mature Patients: Obstacles and Outcomes.

BACKGROUND: As the performance of late primary palatoplasty for skeletally mature patients remains controversial, there is little data available regarding speech outcomes for this patient population. The purpose of this study therefore is to identify and evaluate the impact of speech outcomes following late palate repair on skeletally mature patients. METHODS: A retrospective study was performed on 19 consecutive skeletally mature patients who underwent late primary palate repair between 2010 and 2018. Speech assessment was performed preoperatively, between 3 and 6 months postoperatively, and then after 6 months postoperatively. Levels for hypernasality, oral pressure, and audible nasal air emission were scored and recorded.Patients were stratified by age, gender, presence of postoperative fistula, and Veau cleft type, in order to determine the impact of each variable on final speech outcomes. The Kruskal-Wallis test was used to compare the preoperative speech assessment with the postoperative speech outcomes, and the Mann-Whitney test was used to analyze the impact of the above variables on final speech outcomes. RESULTS: Our data showed overall postoperative speech improvement for all tested variables. Patients without postoperative fistula presented better results in oral pressure than those patients with postoperative fistula (P < 0.05). None of the other tested variables presented a significant negative impact on speech outcomes. CONCLUSION: Late primary palatoplasty significantly improves speech outcomes for skeletally mature patients. Fistula has a negative impact on oral pressure.

Syngnathia in Spectrum of Oromandibular Limb Hypogenesis Syndrome.

Syngnathia is a rare facial anomaly associated with neonatal problems, including a compromised airway, and the inability to take in solids and/or liquids. Syngnathia is included within the spectrum of oromandibular limb hypogenesis syndrome, an extremely rare condition characterized by varying degrees of congenital malformation involving the tongue, mandible, and limbs. In this report, we describe the case of a 41-day-old Caucasian female infant who was unable to open her mouth beginning at birth. The authors performed osteotomies to separate fused bone, and placed a bite block at the osteotomy sites to prevent bone fusion recurrence. At 2 years of follow-up patient remained with 14 mm of mouth opening.

Long-Term Follow-Up on Bone Stability and Complication Rate after Monobloc Advancement in Syndromic Craniosynostosis.

BACKGROUND: Monobloc advancement is a complex procedure used to treat patients with syndromic craniosynostosis. Studies directly addressing the long-term stability of monobloc advancement with distraction osteogenesis are underreported in the literature. The objectives of this study were to assess 5-year midface bone stability following monobloc advancement performed on patients with syndromic craniosynostosis, identify risk factors for relapse, and present strategies for prevention and management of complications. METHODS: An observational retrospective study was performed on consecutive patients with Apert, Crouzon, or Pfeiffer syndrome (n = 23) who underwent monobloc advancement using distraction osteogenesis between 1994 and 2013. A total of 130 lateral cephalograms were used to assess both long-term stability after monobloc advancement with distraction osteogenesis and risk factors for relapse. All serious complications were identified and recorded. The analysis of variance test was used to assess horizontal relapse of the midface and mandibular plane. RESULTS: Cephalometric analysis revealed long-term stability of frontofacial advancement using distraction osteogenesis, regardless of the presence of tested variables. Serious complications arising from monobloc advancement using distraction osteogenesis included cerebrospinal fluid leakage in six patients (26 percent), accompanying meningitis in two patients (8.7 percent), seizures in seven patients (30.4 percent), and impaired visual acuity in one eye of one patient (4.3 percent). CONCLUSION: Frontofacial monobloc advancement with distraction osteogenesis provides long-term midface bone stability. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, IV.