scholarly journals Anaesthesia management in a child with Apert syndrome with craniosynostosis

2016 ◽  
Vol 06 (03) ◽  
pp. 45-47
Author(s):  
Leena Harshad Parate ◽  
M.C. Nagaraj
Keyword(s):  
Apert Syndrome ◽  
Lower Airway ◽  
Posterior Sagittal Anorectoplasty ◽  
Airway Anatomy ◽  
Multisystem Involvement ◽  
Midfacial Hypoplasia ◽  
Multiple Repeat

AbstractApert syndrome is a rare congenial anomaly with multisystem involvement. It is characterized by craniosynostosis, midfacial hypoplasia and global syndactyly. Altered upper and lower airway anatomy, multiple visceral anomalies and multiple repeat surgeries are main anaesthetic challenges. Here we report a case of seven month old child with Apert syndrome who was posted for posterior sagittal anorectoplasty.

Bilateral endoscopic craniectomies in the treatment of an infant with Apert syndrome

2012 ◽  
Vol 10 (4) ◽  
pp. 310-314 ◽  
Author(s):  
David F. Jimenez ◽  
Constance M. Barone
Keyword(s):  
Alternative Treatment ◽  
Treatment Modality ◽  
Apert Syndrome ◽  
Custom Made ◽  
Midfacial Hypoplasia

Patients with Apert syndrome commonly present with ocular proptosis due to bilateral coronal craniosynostosis and midfacial hypoplasia. Severe proptosis can cause visual compromise and damage, which is most commonly treated with bilateral orbital frontal advancement. The authors present the case of a patient who was treated at 8 weeks of age with endoscope-assisted bilateral coronal craniectomies followed by treatment with a custom-made postoperative cranial orthosis. The patient underwent the procedure without any complications. Over the ensuing months, the patient's proptosis corrected, the forehead and orbital rims advanced without the need for an orbital frontal advancement and craniotomies. This approach may provide an alternative treatment modality for these patients.

Upper and lower airway compromise in the apert syndrome

1992 ◽  
Vol 44 (1) ◽  
pp. 90-93 ◽  
Author(s):  
M. Michael Cohen ◽  
Sven Kreiborg
Keyword(s):  
Apert Syndrome ◽  
Lower Airway ◽  
Airway Compromise

Craniofacial, oral, and cervical morphological characteristics in Japanese patients with Apert syndrome or Crouzon syndrome

2020 ◽  
Author(s):  
Yukiho Kobayashi ◽  
Kenji Ogura ◽  
Rina Hikita ◽  
Michiko Tsuji ◽  
Keiji Moriyama
Keyword(s):  
Cervical Vertebrae ◽  
Morphological Characteristics ◽  
Two Dimensions ◽  
Small Sample ◽  
Open Bite ◽  
Apert Syndrome ◽  
Dental Arch ◽  
Crouzon Syndrome ◽  
Lateral Cephalograms ◽  
Midfacial Hypoplasia

Summary Background and objectives Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for both Apert syndrome (AS) and Crouzon syndrome (CS). These diseases share phenotypic characteristics, including midfacial hypoplasia and premature fusion of the calvarial suture(s). Given the extensive range of craniofacial growth and developmental abnormalities, management of these patients requires a multidisciplinary approach. This study aimed to compare craniofacial, oral, and cervical morphological characteristics in Japanese orthodontic patients with AS or CS. Subjects and methods Lateral cephalograms, orthopantomograms, dental casts, medical interview records, facial photographs, and intraoral photographs of 7 AS patients and 12 CS patients on initial visits were used in this study. Cephalometric analyses were performed, and standard scores were calculated based on age- and sex-matched Japanese standard values. Results Cephalometric analysis revealed that AS patients had significantly more severe maxillary hypoplasia in two dimensions and increased clockwise mandibular rotation. Additionally, cleft of the soft palate, anterior open bite, severe crowding in the maxillary dental arch, and congenitally missing teeth occurred more frequently among AS patients. Multiple fusions between cervical vertebrae C2, C3, C5, and C6 were observed in the AS patients. Limitations Small sample size. Conclusions/implications Our study shows that AS patients have more severe craniofacial and maxillofacial deformities than CS patients.

scholarly journals Craniosynostosis: Acrocephalosyndactyly (Apert Syndrome) Diagnosed in a Newborn

PRILOZI ◽  
2017 ◽  
Vol 38 (3) ◽  
pp. 153-155
Author(s):  
Orhideja Stomnaroska ◽  
Dragan Danilovski ◽  
Sanja Ivanovska
Keyword(s):  
Autosomal Dominant ◽  
Ultrasound Examination ◽  
Distal Phalanx ◽  
Apert Syndrome ◽  
Complete Fusion ◽  
Coronal Suture ◽  
Airway Compromise ◽  
Midfacial Hypoplasia ◽  
Hearing Difficulties

AbstractWe report a 10 days old newborn with brachycephaly, midfacial hypoplasia, syndactyly and broad distal phalanx of thumb and big toe. At the 20th gestational weeks an enlargement of the left cerebral ventricle and malformation of the fingers of the hands and toes were noticed on a regular ultrasound examination. The aforementioned malformations were observed at birth and at the age of 11 months. The large fontal was closed; the small one was palpable at the tip of the finger. Brachycephaly was evident with high full forehead, flat occiput, and irregular craniosynostosis especially at the coronal suture. Cutaneous syndactyly was present at both hands (fingers II-V), with almost complete fusion of the second, third and fourth fingers. Distal phalanges of the thumbs were broad as well as distal hallux. There was cutaneous syndactyly of the feet. Mental development at the age of 11 months was normal.Apert syndrome is a sporadic disorder. Rarely, inheritance is autosomal dominant. Appropriate management includes surgical treatment of the syndactylies, follow up of the eventual airway compromise and hearing difficulties. This is a report of a patient identified as a newborn.

Dual Segmental Distraction Osteogenesis of the Midface in a Patient with Apert Syndrome

2006 ◽  
Vol 43 (4) ◽  
pp. 499-506 ◽  
Author(s):  
Mariko Takashima ◽  
Noriyuki Kitai ◽  
Shumei Murakami ◽  
Satoshi Takagi ◽  
Ko Hosokawa ◽  
...  
Keyword(s):  
Distraction Osteogenesis ◽  
Orthodontic Treatment ◽  
Open Bite ◽  
Apert Syndrome ◽  
Postoperative Treatment ◽  
Treatment Results ◽  
Anterior Open Bite ◽  
Maxillary Protraction ◽  
Midfacial Hypoplasia ◽  
Mandibular Teeth

Objective To present orthodontic treatment combined with dual segmental distraction osteogenesis in a patient with Apert syndrome. Patient A 15-year-old boy exhibited severe midfacial hypoplasia with retruded and hypoplastic maxilla and anterior open bite. The patient was treated with a rigid external distraction II system for distraction osteogenesis, a preadjusted edgewise appliance, and a modified maxillary protraction headgear. The concave profile with midfacial hypoplasia was improved. A tight occlusal relationship between maxillary and mandibular teeth was achieved. Postoperative treatment results have been stable for 1 year.

Spectrophotometric Determination of Zolmitriptan in Pure Form and in Tablets Through Charge Transfer Complex Reaction

2019 ◽  
Author(s):  
Safwan Ashour
Keyword(s):  
Charge Transfer ◽  
Limit Of Detection ◽  
Pharmaceutical Preparations ◽  
Dominant Mode ◽  
Pure Form ◽  
Apert Syndrome ◽  
Charge Transfer Complexes ◽  
Midfacial Hypoplasia ◽  
Limit Of Quantitation

Apert syndrome (AS) a type of acrocephalosyndactyly is a rare congenital disorder with autosomal dominant mode of transmission that consists of craniofacial synostosis, midfacial hypoplasia and bilateral limb syndactyly. Patients present in early childhood for multiple surgeries which make it imperative to know about various anaesthetic implications like difficult airway ventilation, airway hyper reactivity, associated congenital anomalies, increased airway secretions and deranged temperature thermoregulation associated with this syndrome. The patient should be thoroughly evaluated preoperatively and managed accordingly. We discuss the successful management of a three and a half years old male child two simple, rapid and selective colorimetric methods were developed for the determination of zolmitriptan (ZMT) in pure form and pharmaceutical preparations. These methods are based on the directly formation of charge-transfer complexes between ZMT and m-nitrophenol (MNP) in aqueous medium (ZMT: MNP, 1:1) and 2,4-dinitrophenol (DNP) in ethanol:water (80:20). The developed method involves formation of coloured complexes (1:1) of ZMT with MNP and DNP. The yellow formed complexes were quantitatively measured at 400 and 440 nm for ZMT-MNP and ZMT-DNP, respectively. Beer's law was obeyed in the concentration ranges of 3.0–260 μg/mL for MNP and 3.5–120 μg/mL for DNP. Limit of detection and limit of quantitation for MNP were calculated as 0.58 and 1.75 μg/mL, respectively, and for DNP were 0.32 and 0.97 μg/mL, respectively. The method was validated with respect to accuracy, robustness and selectivity. The proposed method has been successfully applied for the determination of ZMT in tablets.

Anaesthesia Concerns in Apert Syndrome - A Case Report

2019 ◽  
Author(s):  
Nitish Upadhyay
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Congenital Anomalies ◽  
Autosomal Dominant ◽  
Dominant Mode ◽  
Apert Syndrome ◽  
Successful Management ◽  
Rare Congenital Disorder ◽  
Midfacial Hypoplasia ◽  
Mode Of Transmission

Apert syndrome (AS) a type of acrocephalosyndactyly is a rare congenital disorder with autosomal dominant mode of transmission that consists of craniofacial synostosis, midfacial hypoplasia and bilateral limb syndactyly. Patients present in early childhood for multiple surgeries which make it imperative to know about various anaesthetic implications like difficult airway ventilation, airway hyper reactivity, associated congenital anomalies, increased airway secretions and deranged temperature thermoregulation associated with this syndrome. The patient should be thoroughly evaluated preoperatively and managed accordingly. We discuss the successful management of a three and a half years old male child with Apert syndrome.

Circummaxillary Sutures in Patients With Apert, Crouzon, and Pfeiffer Syndromes Compared to Nonsyndromic Children: Growth, Orthodontic, and Surgical Implications

2020 ◽  
pp. 105566562094761
Author(s):  
Maria Costanza Meazzini ◽  
Federica Corradi ◽  
Fabio Mazzoleni ◽  
Elena De Ponti ◽  
Muriel Maccagni ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Public Hospital ◽  
Matched Control ◽  
Tertiary Care ◽  
Apert Syndrome ◽  
Control Group ◽  
Maxillary Protraction ◽  
Midfacial Hypoplasia ◽  
Computed Tomography Scans ◽  
Control Study

Objective: To evaluate patency of circummaxillary sutures in children with Apert, Crouzon, and Pfeiffer Syndromes and to compare it to a nonsyndromic matched control group. Design: Case–control study. Setting: Tertiary care public hospital. Materials and Methods: Thirty-eight computed tomography (CT) scans of patients affected by syndromic craniofacial synostosis (13 patients with Apert syndrome, 20 patients with Crouzon syndrome, and 5 patients with Pfeiffer syndrome), average age 5 ± 2.8 years, range 1.9 to 12 years, were compared to age- and sex-matched control CTs of 38 nonsyndromic children. Computed tomography scans of the study group had to be performed prior to any midfacial surgery. Main Outcome Measures: Midpalatal suture, zygomaticomaxillary sutures, and pterigomaxillary sutures were evaluated and scored. Results: The syndromic group showed a significant earlier ossification of all sutures compared to the nonsyndromic group. Significant differences were already present in early childhood and continued through adolescence. Conclusions: Based on the differences in terms of maxillary sutural ossification identified, midfacial hypoplasia does not seem to be only secondary to premature cranial base ossification, but also to primary synostosis of facial sutures, thus providing new insights into the pathogenesis of midface deficiency in children with craniofacial-synostosis. Care should be taken when planning any maxillary orthopedics, such as expansion or maxillary protraction, given the high frequency of early fusion of circummaxillary sutures.

Acne in Apert Syndrome

1991 ◽  
Vol 18 (2) ◽  
pp. 407 ◽  
Author(s):  
Bernice Krafchik
Keyword(s):  
Apert Syndrome
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