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The Journal of Craniofacial Surgery 2019Apert syndrome is one of the acrocephalosyndactilia syndromes that is characterized with calvarial an extremity deformities. Anesthesia management of this syndrome is...
Apert syndrome is one of the acrocephalosyndactilia syndromes that is characterized with calvarial an extremity deformities. Anesthesia management of this syndrome is commonly related with difficult airway. However, hyponatremia is another insistent complication that can occur during craniosynostosis surgeries. Hyponatremia is a common complication during calvarial remodeling surgeries and it can result in serious neurologic damage. Development of mild hyponatremia in a patient with Apert syndrome that went under craniosynostosis surgery was presented in this study.
Topics: Acrocephalosyndactylia; Female; Humans; Hyponatremia; Infant; Intraoperative Complications; Orthopedic Procedures; Postoperative Complications
PubMed: 31137453
DOI: 10.1097/SCS.0000000000004833 -
The Cleft Palate-craniofacial Journal :... Apr 2023To date, limited research has been carried out into the psychological impact of having a diagnosis of Apert syndrome (AS) and the life experiences of families living...
To date, limited research has been carried out into the psychological impact of having a diagnosis of Apert syndrome (AS) and the life experiences of families living with this condition. The aim of the current study was to explore psychological adjustment to AS from the perspectives of young people, and their parents, with the broader goal of informing care, and support for this population. Four young people (2 male) aged 11 to 15 years and their mothers were interviewed in their homes using a semistructured interview guide and photo-elicitation methods. Transcripts were analyzed using Interpretive Phenomenological Analysis. Three superordinate themes were identified from the data: (1) Acceptance and Adjustment: A Cyclical Journey; (2) A Barrier to Adjustment: Navigating Treatment; and (3) Facilitating Adjustment: Social Support. Families described adjustment as a cyclical process, which was sensitive to change, particularly in the context of ongoing medical treatment. Families also utilized many resources, particularly in the form of social support, to adjust to the challenges of AS and build resilience. The findings of this study have important implications for the implementation of patient-centered care within designated craniofacial treatment centers, which should at a minimum include the provision of reliable information throughout the treatment pathway, additional support from health professionals at key times of transition, and the coordination of support across medical teams, and other key organizations in the child's life.
Topics: Child; Female; Humans; Male; Adolescent; Emotional Adjustment; Acrocephalosyndactylia; Parents; Social Support; Mothers
PubMed: 34967688
DOI: 10.1177/10556656211069817 -
American Journal of Medical Genetics Mar 1993We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in... (Review)
Review
We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise.
Topics: Acrocephalosyndactylia; Digestive System Abnormalities; Female; Heart Defects, Congenital; Humans; Male; Respiratory System Abnormalities; Urogenital Abnormalities
PubMed: 8456856
DOI: 10.1002/ajmg.1320450618 -
Annals of Plastic Surgery Jul 2021Previous studies have explored the restricted nasopharyngeal airway in Apert syndrome patients. This study aims to investigate the segmented airway volume changes with...
OBJECTIVE
Previous studies have explored the restricted nasopharyngeal airway in Apert syndrome patients. This study aims to investigate the segmented airway volume changes with age and directly analyze their correlations with subcranial dimensions and angulations.
METHODS
Ninety-seven preoperative computed tomography scans (Apert, n = 44; control, n = 53) were included in this study, and divided into 5 age-related subgroups. Computed tomography scans were measured using Mimics and 3-matics software.
RESULTS
Before 6 months of age, the nasal cavity in Apert syndrome is reduced by 47% (P = 0.002), which gradually approximates normal thereafter; however, there remained a 30% reduction, compared with controls. It is highly correlated with the anteroposterior length of subcranial space, and the position of maxilla and palate. The pharyngeal airway volume in Apert syndrome patients, younger than 6 months, was larger than normal by 129% (P = 0.013). However, between 2 and 6 years of age, the pharyngeal airway becomes smaller than normal, with a 57% (P = 0.010) reduction in childhood and 52% (P = 0.005) in adolescence. It is closely correlated with the intercondylar and intergonial widths.
CONCLUSIONS
Airway compromise in Apert syndrome patients is attributable more to the nasal cavity in infants, but in the older child, it is the pharyngeal region. The restricted nasal airway in Apert syndrome is correlated with the subcranial space length and width, but independent of cranial base flexion. The pharyngeal airway volume in Apert syndrome is not as highly correlated with craniofacial morphology. Rather, it is impacted by the growth of mandible, which often requires surgical intervention later in childhood.
Topics: Acrocephalosyndactylia; Adolescent; Cephalometry; Child; Humans; Infant; Mandible; Maxilla; Pharynx; Skull Base
PubMed: 34133365
DOI: 10.1097/SAP.0000000000002601 -
Journal of Perinatology : Official... Oct 2010
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Adult; Brain; Female; Hernia, Umbilical; Humans; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Magnetic Resonance Imaging; Pregnancy; Radiography; Ultrasonography, Prenatal
PubMed: 20877364
DOI: 10.1038/jp.2010.72 -
Congenital Anomalies Jul 2022Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative...
Patients with Apert syndrome or Crouzon syndrome present with severe defects in oral-maxillofacial growth and development. In this study, we conducted a quantitative three-dimensional (3D) analysis of the palatal morphology of patients with Apert syndrome and Crouzon syndrome. Four patients with Apert syndrome (average age, 11.0 ± 0.8 years) and five with Crouzon syndrome (average age, 10.1 ± 1.6 years) were investigated. The participants' maxillary dental casts were scanned and analyzed using 3D imaging. Palatal width, depth, cross-sectional area, and palatal angle (PW, PD, PCA, and PA, respectively) were measured, and standard scores were calculated based on sex- and age-matched Japanese standard values; the actual palatal surface areas (PSA) and palatal volumes (PV) were also measured. Our results show that patients with Apert syndrome and Crouzon syndrome had a very narrow PW (standard score: -3.79 and - 0.47, respectively). 3D analysis revealed that patients with Apert syndrome had a significantly shallower PD (standard score: -1.35) than those with Crouzon syndrome (standard score: 2.47), resulting in a smaller PCA (standard score: -5.13), PSA (5.49 cm ), and PV (1.11 cm ) and larger PA (standard score: -0.12) than those in patients with Crouzon syndrome. This might be due to the former having a narrower and shallower palate caused by the predominant swelling of the palatal mucosa. These findings improve our understanding of the differences in palatal morphology between Apert syndrome and Crouzon syndrome patients.
Topics: Acrocephalosyndactylia; Child; Craniofacial Dysostosis; Humans; Palate
PubMed: 35468239
DOI: 10.1111/cga.12470 -
International Journal of Pediatric... Apr 2004Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually... (Review)
Review
Acrocephalosyndactyly Type I, or Apert syndrome is a congenital disorder characterized by craniosynostosis and syndactyly. When hearing loss occurs, it is usually bilateral and conductive, often attributable to congenital stapes fixation. In determining treatment, the risk of gusher with stapedectomy becomes an important consideration. We present an adult with Apert syndrome and hearing loss, with particular emphasis on a progressive conductive component in one ear. Surgical exploration failed to reveal any definite middle ear abnormality and no stapedectomy was performed. A theory on the pathogenesis of the conductive loss in our patient follows a brief review of the literature on gusher in patients with ear malformations.
Topics: Acrocephalosyndactylia; Adult; Audiometry, Pure-Tone; Auditory Threshold; Ear; Ear, Inner; Female; Hearing Loss, Conductive; Humans; Tomography, X-Ray Computed
PubMed: 15013619
DOI: 10.1016/j.ijporl.2003.11.010 -
Ryoikibetsu Shokogun Shirizu 1996
Review
Topics: Acrocephalosyndactylia; Child, Preschool; Female; Humans
PubMed: 9047999
DOI: No ID Found -
Child's Nervous System : ChNS :... Aug 2018This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance... (Review)
Review
OBJECTIVE
This aimed to describe the prenatal diagnosis of three cases of Apert syndrome using two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), and 3D virtual/physical models.
METHODS
We retrospectively analyzed three cases of Apert syndrome at our service. The prenatal diagnostic methods used were 2D ultrasound, 3D ultrasound in conventional and HDlive rendering modes, T2-weighted MRI sequences, and 3D virtual/physical models from MRI or 3D ultrasound scan data. All imaging methods were performed by one observer. All prenatal diagnoses were confirmed by autopsy in cases of termination of pregnancy or genetic assessment during the postnatal period.
RESULTS
Mean ± standard deviation of maternal and gestational age at the time of diagnosis was 36.5 ± 3.5 years and 32 ± 4.2 weeks, respectively. Main 2D/3D ultrasound and MRI findings were craniosynostosis, hypertelorism, low ear implantation, increased kidneys dimensions, and syndactyly of hands and feet. 3D virtual/physical models allowed 3D view of fetal head and extremity abnormalities. Termination of pregnancy occurred in two cases.
CONCLUSION
Prenatal 3D ultrasound and MRI enabled the identification of all Apert syndrome phenotypes. 3D virtual/physical models provided both the parents and the medical team a better understanding of fetal abnormalities.
Topics: Acrocephalosyndactylia; Adult; Female; Humans; Imaging, Three-Dimensional; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 29441430
DOI: 10.1007/s00381-018-3740-y -
Indian Journal of Pediatrics Jun 2020
Topics: Acrocephalosyndactylia; Humans; Infant; Male; Mutation; Polydactyly; Receptor, Fibroblast Growth Factor, Type 2; Thumb
PubMed: 31879841
DOI: 10.1007/s12098-019-03140-x