Pfeiffer Syndrome Research Articles

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description

ODP393 Pfeiffer syndrome with growth hormone deficiency in a 4-year-old girl

Abstract Backgrounds Craniosynostosis syndrome has a variety of causes, one of which is an autosomal dominant disorder associated with FGFR1 or FGFR2 gene mutation known as Pfeiffer syndrome (PS; OMIM 101600). It is known that PS is clinically diagnosed, not genetic judgment. PS is divided into three subtypes depending on severity of specific phenotypes. Patients with PS type 1 are broad thumbs and great toes, brachydactyly or syndactyly. They have widely spaced eyes, midface hypoplasia and dental abnormalities but short stature is not typical phenotype of PS. We report the patient who were clinically diagnosed PS with short stature because of growth hormone deficiency (GHD). Case Report: A 4 years 7 month-old girl presented with a short stature below the 3rd percentile. She was born at 40 weeks of gestation with a birth weight of 2.9 kg. Her perinatal and neonatal histories were unremarkable. Her parents are non-consanguineous and her mother had micro- pituitary adenoma. She has healthy younger brother who aged 9 months old. In physical examination, height was 91.1 cm (-3.92 SDS), weight was 15.5 kg (-1.15 SDS). Wide thumb and great toes on both sides of her are observed. At the time of admission, bone age was advanced, measured 7 years. There were no specific findings other than a decrease in IGF-1 level (108.24 ng/ml) and increase in prolactin level (27.26 ng/ml) on the basic endocrine examination. The growth hormone (GH) induced stimulation test was performed after admission. She underwent GH induced stimulation test with combinations of 2 stimulants to assess GH secretion: levodopa 150 mg and arginine 0.5 g/kg. The peak GH level was 7.41 ng/ml in levodopa test and 5.58 ng/ml after 30 minutes’ response to arginine. She was diagnosed as a partial GHD defined by peak GH between 5 and 10 ng/ml in both test. There were no findings in karyotyping and chromosomal microarray. As a result of targeted panel sequencing of 233 genes related to hereditary short stature, c.2398dupT, a pathogenic variant that had not been previously reported in the FGFR2 gene, was observed in a heterozygous form as the cause of short stature. Subsequently, recombinant human GH has been administered in units of 0.1 per day according to her weight. The height was increased from 93.6 cm (SDS) in 4 years 10 months old to 98 cm in 5 years 2 months. Any side effects or adverse reactions were not observed during the treatment period. Conclusion It is suggested that a growth hormone test be performed for Pfeiffer syndrome patients with short stature. GH may help growth in patients with positive in the test. Presentation: No date and time listed

Fgfr Gene Mutation and Pfeiffer Syndrome

Pfeiffer syndrome is a genetic disease caused by a defect in the FGFR-1 or FGFR-2 genes. This syndrome affects the skeleton, whether it is a protrusion of the skull bone or problems in the limbs. Not only this, but also affects the eyes, leading to their protrusion, in addition to the possibility of hydrocephalus, and internal viscera imbalance. There are 3 types of the syndrome classified according to the clinical examination of the case, where the symptoms range from mild to severe, which requires surgical intervention. It is easy to diagnose the fetus early through ultrasound examination, which shows ossification in the bones of the skull and deformities of the fingers. The incidence of Pfeiffer syndrome is limited, as it affects one child in 100,000 cases. Genetic testing facilitates early diagnosis and thus helps in rapid treatment and prevention of deterioration of the condition.

Prenatal imaging of a fetus with the rare combination of Pfeiffer syndrome and hypoplastic left heart syndrome.

Prenatal imaging of a fetus with the rare combination of Pfeiffer syndrome and hypoplastic left heart syndrome.

Factors Affecting Optic Nerve Damage in Le Fort III Osteotomy: A Retrospective Study.

The causes of visual impairment following Le Fort osteotomy for syndromic craniosynostosis have not been completely elucidated. The authors investigated the potential causes and means of prevention of optic nerve damage, with particular emphasis on intraoperative blood transfusion volume and operating time. This retrospective study evaluated patients who underwent Le Fort III osteotomy for syndromic craniosynostosis between 2000 and 2020. Data on pupillary reflex, pupil size, operating time, blood transfusion, age at time of surgery, sex, and syndrome type were obtained from medical records. Univariate analysis and multivariate analysis with the level of statistical significance set at P <0.05. For the 86 patients included, the mean values of operating time, amount of blood transfusion based on body weight, amount of blood transfusion per body weight per hour, and age were 6.0 hours (range: 3.5-12.3h), 30.5mL/kg (range: 0-322mL/kg), 5.14mL/kg/h (range: 0-35.7mL/kg/h), and 10.0 years (range: 4-38y), respectively. Crouzon, Apert, and Pfeiffer syndromes were observed in 49, 29, and 8 patients, respectively. Abnormal pupillary findings were observed in 27 patients of whom 25 showed no abnormalities in subsequent visual function and 2 developed blindness. Abnormal pupillary findings correlated with the amount of blood transfused per body weight ( P =0.0082) and amount of blood transfused per body weight per hour ( P =0.0052). As demonstrated in this study, increased intraoperative bleeding and amount of blood transfused were associated with optic nerve damage, particularly during acute bleeding. Prompt inspection of the pupils following surgery is therefore warranted.

Cranial Morphology Associated With Syndromic Craniosynostosis: A Potential Detection of Abnormality in Patient's Cranial Growth Using Angular Statistics.

Apert, Crouzon, and Pfeiffer syndromes are common genetic syndromes related to syndromic craniosynostosis (SC), whereby it is a congenital defect that occurs when the cranial growth is distorted. Identifying cranial angles associated with these 3 syndromes may assist the surgical team to focus on a specific cranial part during the intervention planning, thus optimizing surgical outcomes and reducing potential morbidity. The aim of this study is to identify the cranial angles, which are associated with Apert, Crouzon, and Pfeiffer syndromes. The cranial computed tomography scan images of 17 patients with SC and 22 control groups aged 0 to 12 years who were treated in the University Malaya Medical Centre were obtained, while 12 angular measurements were attained using the Mimics software. The angular data were then divided into 2 groups (patients aged 0 to 24 months and >24 months). This work proposes a 95% confidence interval (CI) for angular mean to detect the abnormality in patient's cranial growth for the SC syndromes. The 95% CI of angular mean for the control group was calculated and used as an indicator to confirm the abnormality in patient's cranial growth that is associated with the 3 syndromes. The results showed that there are different cranial angles associated with these 3 syndromes. All cranial angles of the patients with these syndromes lie outside the 95% CI of angular mean of control group, indicating the reliability of the proposed CI in the identification of abnormality in the patient's cranial growth.

Optic Nerve Atrophy in Syndromic Craniosynostosis.

Numerous children born with syndromic craniosynostosis will develop visual impairments. Based on the hypothesis that elevations in intracranial pressure might have greater impacts on vision than development, this review sought to ascertain the prevalence of optic nerve atrophy in syndromic craniosynostosis and to look for potential predictive factors. The authors conducted a retrospective chart review of all children with syndromic craniosynostosis treated at a single center. Of 442 patients with syndromic craniosynostosis, complete ophthalmologic records were available for 253. Although no instances of optic nerve atrophy were noted among those with Saethre-Chotzen or Muenke syndromes, an overall 14.7 percent prevalence was noted among those with Apert (7.8 percent), Crouzon (27.9 percent), and Pfeiffer syndromes (23.1 percent), with initial diagnoses occurring at a mean age of 10 years. The presence of a Chiari malformation was found to significantly correlate with the subsequent diagnosis of optic nerve atrophy (OR, 3.544; p = 0.002); however, the timing of the first cranial vault procedure, presence of a ventriculoperitoneal shunt, degree of brachycephaly, number of vault expansions, and diagnosis of sleep apnea, did not show significant associations. A substantial percentage of children with Apert, Crouzon, and Pfeiffer syndromes were found to develop optic nerve atrophy, with a prevalence likely to trend higher with longer follow-up. Chiari malformations were the only significant potential predictor for optic nerve atrophy. With the goal of preventing visual losses, more frequent monitoring for raised intracranial pressure with ophthalmologic evaluations and magnetic resonance imaging measurements of optic nerve sheath diameters should be considered. Risk, III.

Meckel’s Cartilage in Mandibular Development and Dysmorphogenesis

The Fgfr2c C342Y/+ Crouzon syndrome mouse model carries a cysteine to tyrosine substitution at amino acid position 342 (Cys342Tyr; C342Y) in the fibroblast growth factor receptor 2 (Fgfr2) gene equivalent to a FGFR2 mutation commonly associated with Crouzon and Pfeiffer syndromes in humans. The Fgfr2c C342Y mutation results in constitutive activation of the receptor and is associated with upregulation of osteogenic differentiation. Fgfr2cC342Y/+ Crouzon syndrome mice show premature closure of the coronal suture and other craniofacial anomalies including malocclusion of teeth, most likely due to abnormal craniofacial form. Malformation of the mandible can precipitate a plethora of complications including disrupting development of the upper jaw and palate, impediment of the airway, and alteration of occlusion necessary for proper mastication. The current paradigm of mandibular development assumes that Meckel’s cartilage (MC) serves as a support or model for mandibular bone formation and as a template for the later forming mandible. If valid, this implies a functional relationship between MC and the forming mandible, so mandibular dysmorphogenesis might be discerned in MC affecting the relationship between MC and mandibular bone. Here we investigate the relationship of MC to mandible development from the early mineralization of the mandible (E13.5) through the initiation of MC degradation at E17.7 using Fgfr2c C342Y/+ Crouzon syndrome embryos and their unaffected littermates (Fgfr2c +/+ ). Differences between genotypes in both MC and mandibular bone are subtle, however MC of Fgfr2c C342Y/+ embryos is generally longer relative to unaffected littermates at E15.5 with specific aspects remaining relatively large at E17.5. In contrast, mandibular bone is smaller overall in Fgfr2c C342Y/+ embryos relative to their unaffected littermates at E15.5 with the posterior aspect remaining relatively small at E17.5. At a cellular level, differences are identified between genotypes early (E13.5) followed by reduced proliferation in MC (E15.5) and in the forming mandible (E17.5) in Fgfr2c C342Y/+ embryos. Activation of the ERK pathways is reduced in the perichondrium of MC in Fgfr2c C342Y/+ embryos and increased in bone related cells at E15.5. These data reveal that the Fgfr2c C342Y mutation differentially affects cells by type, location, and developmental age indicating a complex set of changes in the cells that make up the lower jaw.

Perioperative management and complication control of Le Fort Ⅲ osteotomy in children with syndromic craniosynostosis

Objective: To summarize the preliminary efficacy, perioperative management and complications of Le Fort Ⅲ osteotomy and midface distraction in patients with syndromic craniosynostosis by retrospective analysis, and to provide clinical experience for reference. Methods: From October 2017 to January 2020, 20 patients with syndromic craniosynostosis underwent Le Fort Ⅲ osteotomy and distraction in The Department of Oral and Maxillofacial Surgery of Peking University International Hospital, including 11 males and 9 females, were involved. The median age was 7 years (1.5 to 15 years). Preoperative risk prevention plan was put forward by multidisciplinary evaluation, and preoperative intervention was carried out. The diagnostic data of SNA, airway volume, polysomnography (PSG), ophthalmology and occlusal relationship were obtained through specialized examination, and osteotomy and distraction surgical plan was formulated through virtual surgical planning. CT was taken 1 week and 3, 6, 12 months after operation, PSG and eye protrudence examination were conducted to evaluate the therapeutic effect, syndrome type, multiple disciplinary treatment (MDT) intervention, occurrence and outcome of complications were summarized. Results: There were 15 cases of Crouzon syndrome and 5 cases of Pfeiffer syndrome. Sleep apnea was the first complaint in 18 cases and exophthalmia in 2 cases. Preoperative interventional therapy included 4 cases of adenoid surgery, 2 cases of continuous positive airway pressure and 2 cases of maxillary expansion. The most common surgical complications were accidental fracture (14/20 cases, 70%), cerebrospinal fluid fistula (2 cases), internal carotid cavernous sinus fistula (1 case), postoperative hyponatraemia (5 cases), crying syndrome (2 cases), wound infection (2 cases), trichiasis of lower eyelid (4 cases), and nasal malformation (1 case). Three cases underwent unplanned secondary surgery. SNA, airway volume and mean percutaneous arterial oxygen saturation (SpO2) six months after operation were significantly higher than those before operation (F=10.09, P=0.001; F=5.13, P<0.001; F=10.78, P=0.001), and the protrusion and apnea hypopnea index were significantly lower than those before surgery (F=6.73, P=0.010; F=18.47, P<0.001). There were no significant differences in SNA, airway volume, mean SpO2, ophthalmology between 6 months after surgery and 1 year after surgery (P>0.05). Conclusions: Perioperative safety assessment and early intervention of MDT is an effective diagnosis and treatment model of Le Fort Ⅲ osteotomy and distraction for syndromic craniosynosis. The operative complications are mainly local, and systemic complications are controllable.

Imaging of Pfeiffer Syndrome: A Case Report

BACKGROUND: Pfeiffer syndrome (PS) is a rare case in the Asian population, and only a few have been reported in Indonesia. This case report aims to spotlight the identification of PS with its correlated radiological imaging and distinguish it from other syndromes. CASE REPORTS: The authors report a case of a 5-year-old girl with PS, manifested by brachyturricephally, broad thumbs and big toes, and medially deviated big toes. The patient also had proptosis, midface hypoplasia, and bilateral Syndactyly of the fingers and toes. This report confirms the thorough examination procedures and indexes to identify PS as a literature reference for the research of reported PS in Southeast Asian race patients and as one comprehensive source for identification using index figures. CONCLUSION: This report provides a detailed radiology interpretation of PS on Southeast Asian race patients. Radiological findings can help in diagnosing and determining adequate treatment as needed.

Tracheal Cartilaginous Sleeve in Antley-Bixler Syndrome With W290C Mutation in FGFR2

A case is presented to show tracheal cartilaginous sleeve in Antley-Bixler syndrome, which is the second case to be reported so far. In this patient, W290C mutation in FGFR2, the mutation previously known to cause Pfeiffer syndrome, was newly identified. After receiving tracheostomy, the patient recovered from repetitive respiratory distress, and retrieved normal respiratory function. Thorough airway examination and active surgical management such as tracheostomy is necessary in children with syndromic craniosynostosis, including Antley-Bixler syndrome.

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

ObjectiveCraniosynostosis is the result of the early fusion of cranial sutures. Syndromic craniosynostosis includes but not limited by Crouzon syndrome and Pfeiffer syndrome. Considerable phenotypic overlap exists among these syndromes and mutations in FGFR2 may cause different syndromes. This study aims to investigate the explanation of the phenotypic variability via clinical and genetic evaluation for eight patients in a large pedigree.MethodsFor each patient, comprehensive physical examination, cranial plain CT scan with three‐dimensional CT reconstruction (3D‐CT), and eye examinations were conducted. Whole exome sequencing was applied for genetic diagnosis of the proband. Variants were analyzed and interpreted following the ACMG/AMP guidelines. Sanger sequencing was performed to reveal genotypes of all the family members.ResultsA pathogenic variant in the FGFR2 gene, c.833G > T (p.C278F), was identified and proved to be co‐segregate with the disease. Some symptoms of head, hearing, vision, mouth, teeth expressed differently by affected individuals. Nonetheless, all the eight patients manifested core symptoms of Crouzon syndrome without abnormality in the limbs, which could exclude diagnosis of Pfeiffer syndrome.ConclusionWe have established clinical and genetic diagnosis of Crouzon syndrome for eight patients in a five‐generation Chinese family. Variability of clinical features among these familial patients was slighter than that in previously reported sporadic cases.

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear. Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared. Craniometric and volumetric analyses related to the orbital and periorbital anatomy were performed using Materialise (Leuven, Belgium) software. Overall, orbital cavity volume of Pfeiffer patients is reduced by 28 percent (p < 0.001), compared to normal, starting before 3 months of age (p = 0.004). Globe volume was diminished by 10 percent (p = 0.041) before 3 months of age, yet tended to catch up thereafter. However, the retrobulbar soft-tissue volume remained smaller beyond 1 year of age (17 percent, p = 0.003). Globe volume projection beyond the bony orbit increased in all observed ages (82 percent, p < 0.001). The volumes of sphenoid bone, maxilla, and mandible proportionately were restricted by 24 to 25 percent (p = 0.003 to 0.035) before 3 months of age. The volume of maxilla and mandible gradually approximate normal; however, the sphenoid bone volume in Pfeiffer patients remains less than normal (p = 0.002) into childhood. The anteroposterior length of both the zygoma and the maxilla was reduced by 14 percent (p < 0.001). Anterior positioning of the zygoma is less by 23 percent (p < 0.001) in Pfeiffer patients overall, with anterior positioning of maxilla reduced similarly by 23 percent (p < 0.001). Pfeiffer syndrome patients develop decreased retrobulbar soft-tissue and globe volume, along with a restricted orbital cavity volume in infancy. Significant hypoplasia of the sphenoid bone is associated with more severe central facial (maxilla) retrusion, compared to lateral facial structures (zygoma). Risk, II.

Computer-Assisted Frontofacial Monobloc Advancement and Facial Bipartition for Pfeiffer Syndrome: Surgical Technique

In patients with Pfeiffer syndrome, several corrections are required to correct facial retrusion, maxillary deficiency, or even hypertelorism. The frontofacial monobloc advancement (FFMA) and the facial bipartition (FB) are the gold standard surgeries. We present the correction of this deformity using a simultaneous computer-assisted FFMA and FB. The 3-dimensional surgical planning defined the virtual correction and bone-cutting guide in view of the FFMA and FB. Coronal and intraoral approaches were combined to perform the osteotomies. Four internal distractors were also placed for the postoperative distraction osteogenesis. We reported 2 cases of computer-assisted surgery with satisfying outcomes. The sagittal deficiency (fronto-facial retrusion) was corrected by FFMA and the transversal abnormality (i.e., hypertelorism and maxillary deficiency) by the FB, then followed by an internal distraction osteogenesis. Computer-assisted surgery is helpful and a reliable option for the management of complex faciocraniosynostosis such as hypertelorism and frontofacial retrusion.

Craniofacial Orthodontic Experience in CODA-Accredited Orthodontic Residency Programs.

To evaluate orthodontic care for patients with craniofacial anomalies (CFA) by identifying orthodontic residents' preparedness to treat certain conditions and willingness to receive more training in CFA. A 12-question survey was sent through the American Association of Orthodontics (AAO) organization to orthodontic residents. Questions were primarily designed to obtain information on the frequency with which they dealt with patients with CFA in their training, specific craniofacial conditions that orthodontic residents feel comfortable treating. A total of 150 participants out of 1066 responded. Of the 150 responses, 35% were first-year residents, 43% second year, and 22% were third-year residents. Thirty nine percent of residents saw 3 or more CFA patients during their residency followed by 24% that saw no patients with CFA. Forty five percent reported that 1 to 3 hours of lecture time was devoted to CFA per month. Sixty percent felt their training in CFA was not sufficient to feel comfortable treating these patients in practice. Specifically, 62% felt comfortable treating Down syndrome, 84% unilateral cleft lip and/or palate, and 64% bilateral cleft lip and/or palate, while the majority did not feel comfortable treating Pierre Robin sequence (68%), Cleidocranial dysplasia (65%), Crouzon syndrome (75%), Pfeiffer syndrome (80%), Treacher Collins syndrome (76%), Apert syndrome (76%), CHARGE syndrome (84%), and DiGeorge sequence (84%). Seventy eight percent of residents reported that they would like more training in treating craniofacial. Orthodontic residents did not feel comfortable treating patients with CFA. Majority of the residents felt that they would like to learn more about CFA.

Syndrome Associated with Cervical Vertebrae Anomalies and Orthodontic Relevance

Cervical vertebrae anomalies (such as Dehiscence, fusion of cervical spine, occipitalization) are associated with myelopathy, cause limitation in neck movement, muscular atrophy, and regional sensory loss. These cervical vertebrae anomalies are associated with syndromes such as Klippel-Feil syndrome, Goldenhar syndrome, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Larsen syndrome and 22q11.2 micro deletion syndromes. Cervical vertebrae anomalies can be visualized in lateral cephalogram which is routinely advised for orthodontic patients to assess maxillary and mandibular relationship. Assessment of CVA in lateral cephalogram at an early age is essential, not only for treatment of the malformation but because there may be an association with other spinal and non-spinal diseases related to development. Present review discusses about various syndromes and clinical manifestations associated with cervical vertebrae anomalies and its relevance in orthodontics.

Anaesthetic Management and Literature Review of Syndromic Craniosynostosis in Infants-A Case Series

Craniosynostosis is a rare congenital defect. This group of patients is heterogeneous, presenting as a single suture defect in otherwise well child to Syndromic Craniosynostosis (SC) affecting multiple sutures as cranial defect associated with extracranial defects. Syndromic Craniosynostosis is found to be associated with Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndrome. These cases are generally associated with raised Intracranial Pressure (ICP), difficult airway and congenital multiple organ involvement. The case series describes the successful anaesthetic management of three and half-month-old male infant with Crouzon syndrome presented with raised ICP and difficult airway, planned for third ventriculostomy and seven-month-old male infant with Apert syndrome with syndactyly for correction surgery. A literature review about anaesthetic concerns related to SC is also described. The literature search was performed in the PubMed database with terms SC and anaesthetic management.

Pfeiffer syndrome – a case report

Pfeiffer syndrome is a severe autosomal dominant condition that affects many systems of the human body. It is caused by mutations in the fibroblast growth factor receptors of the fibroblast growth factor genes. The phenotype of patients with Pfeiffer syndrome includes multiple limb and cranial abnormalities, and mental retardation. The infant reported here also had cloverleaf-shaped skull, broad thumbs and big toes, bilateral syndactyly, and hypertelorism. The patient was hospitalised in the Lviv Regional Clinical Hospital with multiple congenital malformations and severe neurological status. Acrocephaly, cloverleaf-shaped skull and severe concomitant neurological complications suggested Pfeiffer syndrome, which was later confirmed.

APERT SYNDROM case report

Primary craniosynostosis is a from of premature fusion of the cranial sutures, an event which usually occurs prenatally. Both syndromic and nonsyndromic forms exist. Most cases are of unknown etiology; genetic syndromes account for 10%–20% of cases, of which Apert, Crouzon and Pfeiffer syndromes are the most common. Scaphocephaly occurs from premature closer of the sagittal suture and is the most common form of craniosynostosis. Frontal plagiocephaly is the next most common form and results from premature fusion of a coronal and sphenofrontal suture. Palpation of the suture at birth often reveals a bony ridge. Skull radiograph or head CT may be considered. Certain genetic forms of craniosynostosis are caused by mutations in TWIST, FGFR1, FGFR2, or FGFR3. Apert syndrome is a rare congenital disorder characterized by craniosynostosis (such as cone-shaped calvarium) and severe symmetrical syndactyly of the hands and feet. We have aimed to present a newborn male patient having all the features of classical Apert syndrome.

Perioperative airway complications in infants and children with Crouzon and Pfeiffer syndromes: A single-center experience.

Crouzon and Pfeiffer syndromes are rare genetic disorders characterized by craniosynostosis, exorbitism, and maxillary hypoplasia. Patients with these syndromes frequently require general anesthesia for various diagnostic and surgical procedures and may present a challenge to anesthetists with regard to airway management. The primary aim of this study was to determine the incidence, timing, and management of perioperative upper airway obstruction in infants and children with Crouzon and Pfeiffer syndromes. The secondary aim was to determine the degree of difficulty in performing endotracheal intubation. A retrospective review of 812 anesthetic encounters in 67 patients was conducted. The following were recorded: timing and management of episodes of perioperative upper airway obstruction, from induction of anesthesia to discharge from recovery, degree of difficulty with laryngoscopy using the Cormack-Lehane grading system and number of intubation attempts required, patient demographics, respiratory comorbidity, surgical procedure, and anesthetic airway management techniques. Upper airway obstruction at induction of anesthesia was very common, with an incidence of 31% (167/542 anesthetic encounters affecting 54 patients). In a quarter of these incidents, bag-valve-mask ventilation was challenging, but a laryngeal mask airway was almost always effective. Upper airway obstruction on emergence from anesthesia was less common, with an incidence of 2.7% (14/515 anesthetic encounters affecting 10 patients). Contributing factors included patient comorbidity (obstructive sleep apnea, nasal stenosis) and the nature of surgery (craniofacial or airway procedures). Intubation was rarely difficult in this cohort, with 85% of laryngoscopies rated Cormack-Lehane grade 1 or 2 (n=373), and 89% of intubations successful on the first attempt (n=306). Upper airway obstruction at induction of anesthesia is common in patients with Crouzon and Pfeiffer syndrome. These patients are likely to present some difficulties with perioperative airway management, especially bag-valve-mask ventilation, but rarely endotracheal intubation.