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Plastic and Reconstructive Surgery Oct 2018Apert hand reconstruction requires complex surgical planning. The purpose of this study was to describe the authors' 8-year surgical experience with Apert syndrome hand... (Observational Study)
Observational Study
BACKGROUND
Apert hand reconstruction requires complex surgical planning. The purpose of this study was to describe the authors' 8-year surgical experience with Apert syndrome hand reconstruction, and provide specific surgical strategies for achieving a five-digit hand in Upton type I and II hands.
METHODS
A retrospective analysis of consecutive Apert syndrome patients who underwent web-space releases between 2007 and 2015 was performed. Demographic, surgical, and outcome data were verified through medical records, clinical photographs, radiographic images, and patient interviews.
RESULTS
A total of 41 Apert syndrome patients [23 boys (56.1 percent) and 18 girls (43.9 percent)] have been treated at our hospital since 2007. A five-digit hand was achieved in all patients (100 percent) with Upton type I and II hands, and in eight patients (72.7 percent) with Upton type III hands. A four-digit hand was obtained in three of 11 patients (27.3 percent) with Upton type III hands. Four of 20 patients (25 percent) with Upton type I hands, three of 10 patients (30 percent) with Upton type II hands, and six of 11 patients (54.5 percent) with Upton type III hands required subsequent revision for aesthetic reasons.
CONCLUSIONS
Upton type III hands have demonstrated higher revision rates than type I and II hands, regardless of whether a four- or five-digit hand is obtained. Treatment strategies for Apert syndrome hands based on hand type are offered to guide four-web-space release in all patients with Upton type I and II hands.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Esthetics; Female; Fingers; Humans; Infant; Male; Reoperation; Retrospective Studies; Treatment Outcome
PubMed: 29994846
DOI: 10.1097/PRS.0000000000004815 -
American Journal of Medical Genetics Jan 1990In this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the... (Review)
Review
In this paper, we present available central nervous system data from our series of patients with the Apert syndrome. Combining our own data with that available in the literature, 30 patients had malformations of the corpus callosum, the limbic structures, or both. Other frequent findings included megalencephaly (7 cases), gyral abnormalities (8 cases), encephalocele (4 cases), pyramidal tract abnormalities (2 cases), hypoplasia of cerebral white matter (4 cases), and heterotopic gray matter (2 cases). Progressive hydrocephalus seems to be uncommon and has frequently been confused with nonprogressive ventriculomegaly in the past. Psychometric evaluations, neurological findings, and neuropathologic reports from the literature are critically reviewed. It is clear that a significant number of patients with the Apert syndrome are mentally retarded. It is suggested that malformations of the central nervous system may be responsible for most cases.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Agenesis of Corpus Callosum; Brain; Child; Humans; Intellectual Disability; Intelligence Tests; Skull
PubMed: 2405668
DOI: 10.1002/ajmg.1320350108 -
Cutis May 1980We report herein a case of Apert's syndrome, which is characterized clinically by cranial, facial, and limb malformations. Acne vulgaris of the upper extremities...
We report herein a case of Apert's syndrome, which is characterized clinically by cranial, facial, and limb malformations. Acne vulgaris of the upper extremities constitutes the dermatologic hallmark of this rarely reported disorder.
Topics: Acne Vulgaris; Acrocephalosyndactylia; Adolescent; Female; Humans; Syndrome
PubMed: 6445815
DOI: No ID Found -
Plastic and Reconstructive Surgery Apr 2019The goal of this study was to determine upper-extremity function and health-related quality of life in a cohort of adults with Apert syndrome.
BACKGROUND
The goal of this study was to determine upper-extremity function and health-related quality of life in a cohort of adults with Apert syndrome.
METHODS
Twenty-two adults with Apert syndrome completed the Disabilities of the Arm, Shoulder, and Hand survey; the 36-Item Short-Form Health Survey; and a semistructured interview. One surgeon administered the Jebsen Hand Function Test and measured sensation, joint motion, and strength.
RESULTS
Median Disabilities of the Arm, Shoulder, and Hand score was 16.9, which indicated slightly greater disability than the population norm of 10.1. Median 36-Item Short-Form Health Survey scores were 54.5 for mental health and 57.0 for physical health-both more favorable than population norms. Total Jebsen Hand Function Test scores for dominant hand were 69.2 seconds for men and 64.7 seconds for women versus 37.8 seconds for population norms of both sexes. More complex syndactyly resulted in worse metacarpophalangeal joint motion but no significant difference in Disabilities of the Arm, Shoulder, and Hand; 36-Item Short-Form Health Survey; or other functional results. There was no difference in self-reported outcomes between patients with four (n = 8) versus five digits (n = 14) in each hand.
CONCLUSIONS
In this cohort of adults with Apert syndrome, self-reported assessment of disability was more favorable than measured functional data would suggest. Despite significant functional deficits, the participants in this study had adapted remarkably well.
Topics: Acrocephalosyndactylia; Activities of Daily Living; Adaptation, Physiological; Adult; Cohort Studies; Disability Evaluation; Female; Humans; Life Style; Male; Quality of Life; Upper Extremity; Young Adult
PubMed: 30676503
DOI: 10.1097/PRS.0000000000005479 -
The Nebraska State Medical Journal Nov 1967
Topics: Acrocephalosyndactylia; Adult; Female; Germ Cells; Humans; Male; Middle Aged
PubMed: 4230035
DOI: No ID Found -
The Journal of Craniofacial SurgeryApert syndrome is a genetic disorder characterized by craniofacial abnormalities and premature closure of the coronal sutures. The restriction of cranial development may...
BACKGROUND
Apert syndrome is a genetic disorder characterized by craniofacial abnormalities and premature closure of the coronal sutures. The restriction of cranial development may have a subsequent effect on paranasal anatomy development.
AIM
The aim of the study was to gain an understanding of paranasal sinus anatomical variations seen in children with Apert syndrome.
MATERIALS AND METHODS
This was a retrospective review of computed tomography and magnetic resonance images of children with Apert syndrome from 2000 to 2020. Images were reviewed to identify anatomical variations in paranasal sinus anatomy.
RESULTS
Twenty-one patients were included in the study. The most commonly seen variation was septal deviation in 86% of cases, with 60% of patients having a septal defect. The presence of protrusion or dehiscence of the infraorbital nerve, carotid canal and Vidian nerve, and presence of a concha bullosa were not observed in any patients. Keros type I was the most commonly observed olfactory fossa depth in 79% of patients, and type I Kuhn cells were observed in 83% of patients.
CONCLUSIONS
To our knowledge, this is the first study which describes the prevalence of variations in paranasal sinus anatomy found in children with Apert syndrome. Septal deviation, type I Kuhn cells and Keros type I olfactory fossa depth were observed in a higher prevalence in our cohort than in the general population. As such, assessment for the presence of chronic rhinosinusitis and nasal obstruction should be evaluated as part of the multidisciplinary assessment.
Topics: Acrocephalosyndactylia; Child; Humans; Nasal Septum; Nose Deformities, Acquired; Paranasal Sinuses; Retrospective Studies; Sinusitis
PubMed: 35385231
DOI: 10.1097/SCS.0000000000008248 -
American Journal of Perinatology Aug 1997Apert Syndrome is characterized by craniosynostosis, bilateral syndactyly, and midfacial hypoplasia. Although it was first described by Wheaton in 1894, it was first... (Review)
Review
Apert Syndrome is characterized by craniosynostosis, bilateral syndactyly, and midfacial hypoplasia. Although it was first described by Wheaton in 1894, it was first diagnosed prenatally only a decade ago-with only five cases reported in the literature. A sixth case is reported here. Prenatal diagnosis of Apert syndrome is reviewed.
Topics: Abortion, Therapeutic; Acrocephalosyndactylia; Adult; Diagnosis, Differential; Female; Fetal Death; Genetic Counseling; Humans; Pregnancy; Pregnancy Trimester, First; Ultrasonography, Prenatal
PubMed: 9263565
DOI: 10.1055/s-2007-994174 -
The Journal of Craniofacial Surgery Jul 2012Apert syndrome is a complex craniofacial deformity with a broad clinical spectrum that mainly affects the craniofacial skeleton, lower and upper limbs. The quality of...
Apert syndrome is a complex craniofacial deformity with a broad clinical spectrum that mainly affects the craniofacial skeleton, lower and upper limbs. The quality of life for patients born with Apert syndrome may be strongly affected by the limitations that this syndrome imposes. The aims of this study were to describe the quality of life of patients born with Apert syndrome and the challenges of managing an Apert protocol in Brazil. The quality of life of 8 Apert patients who adhered to our management protocol was assessed using the Portuguese version of WHOQOL-100 (World Health Organization Quality of Life instrument). The answers were submitted to SPSS (Statistic Package for Social Science), and results were expressed in 25 facets and 6 domains (physical, psychological, social relations, level of independence, environment, and spirituality). Patients and families signed an informed consent, and the study was previously approved by our institutional review board. The cohort of patients scored 60 in 22 of 25 facets, with no grade less than 50. The facet of positive feelings note was 76.79; self-esteem and body image scored, respectively, 75.00 and 85.71. When the facets were grouped into domains, they had a high overall score. The cohort of Apert patients presented a satisfactory quality of life. This cohort of Apert patients acquired the necessary repertoire to manage the aversive daily situations of their lives.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Body Image; Brazil; Child; Female; Humans; Male; Quality of Life; Self Concept; Surveys and Questionnaires
PubMed: 22777480
DOI: 10.1097/SCS.0b013e318258814a -
The Journal of Craniofacial Surgery Sep 2010There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital... (Review)
Review
There are significant differences in the ocular manifestations of Apert and Crouzon syndromes. Here, we present qualitative and quantitative data about the oculo-orbital region to demonstrate these differences. Although ocular protosis and hypertelorism characterize both disorders, the nature of the orbital dystopia differs. In Crouzon syndrome, ocular proptosis is primarily caused by retrusion of the lateral and inferior orbital margins with a very short orbital floor. In Apert syndrome, the eyeglobe actually protrudes in relation to the cranial base and to the orbit, probably resulting from marked protrusion of the lateral orbital wall. The implications account for some of the differences encountered. Asymmetry is associated with Apert syndrome frequently. Exotropia is found in Crouzon syndrome, whereas the V pattern is more characteristic in Apert syndrome with divergent upgaze and esotropic downgaze. Subluxation of the eyeglobe is found in some cases of Crouzon syndrome but is not found in Apert syndrome. Optic atrophy found in approximately 20% of Crouzon syndrome patients is not characteristic of Apert syndrome. Structural alterations of the extraocular muscles have been associated with some cases of Apert syndrome, suggesting that ocular motility disturbances in Apert syndrome may not be caused solely by mechanical factors. Absence of the superior rectus and other extraocular muscles has been recorded. Furthermore, albinoid alterations of the fundus have also been associated with Apert syndrome.
Topics: Acrocephalosyndactylia; Cephalometry; Craniofacial Dysostosis; Exophthalmos; Eye Abnormalities; Humans; Hypertelorism; Radiography
PubMed: 20856021
DOI: 10.1097/SCS.0b013e3181ef2b53 -
International Journal of Dermatology Nov 2016
Topics: Acne Vulgaris; Acrocephalosyndactylia; Adolescent; Female; Humans
PubMed: 27428282
DOI: 10.1111/j.1365-4632.2011.05134.x