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Child's Nervous System : ChNS :... Jun 2021The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data...
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.
Topics: Acrocephalosyndactylia; Child; Craniofacial Dysostosis; Craniosynostoses; Humans; Osteogenesis, Distraction; Retrospective Studies
PubMed: 33866411
DOI: 10.1007/s00381-021-05169-w -
Clinics in Plastic Surgery Apr 1991The surface dysmorphology of the head in Apert syndrome has been known for a century. Recent advances in computer-assisted medical imaging technology allows in vivo... (Review)
Review
The surface dysmorphology of the head in Apert syndrome has been known for a century. Recent advances in computer-assisted medical imaging technology allows in vivo nondestructive "dissection." The authors have used this technology to study the subsurface craniofacial dysmorphology of 14 patients with Apert syndrome ranging in age from infancy to adulthood.
Topics: Acrocephalosyndactylia; Adult; Child, Preschool; Facial Bones; Humans; Infant; Infant, Newborn; Skull; Tomography, X-Ray Computed
PubMed: 2065487
DOI: No ID Found -
Human Genetics May 1986Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has...
Apert (1906) was the first to identify a syndrome characterized by the association of acrocephaly with syndactyly, acrocephalosyndactylism. Since then Apert syndrome has been recognized as a clinical entity. Although hydrocephalus was rarely reported as an associated malformation, it was suggested that hydrocephalus might be responsible for mental retardation in some cases of Apert syndrome. We report a case of Apert syndrome presenting as fetal hydrocephaly at 28 weeks gestational age, and we review the literature. We suggest that hydrocephalus should be considered as a major associated malformation, and a complete evaluation with sonogram and computed tomography scan is recommended in any newborn suspected of having Apert syndrome after routine cephalometric measurement.
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Adult; Female; Humans; Hydrocephalus; Infant, Newborn; Male; Pregnancy; Prenatal Diagnosis; Ultrasonography
PubMed: 3519431
DOI: 10.1007/BF00292674 -
Handchirurgie, Mikrochirurgie,... Sep 1984The Apert syndrome is a complex deformity. Blauth distinguishes three degrees of deformity in the hand; these are demonstrated in our patients. The functional results...
The Apert syndrome is a complex deformity. Blauth distinguishes three degrees of deformity in the hand; these are demonstrated in our patients. The functional results after operative treatment were satisfying.
Topics: Acrocephalosyndactylia; Child; Child, Preschool; Fingers; Follow-Up Studies; Hand; Humans; Infant; Male; Motor Skills; Thumb
PubMed: 6489855
DOI: No ID Found -
Plastic and Reconstructive Surgery Apr 2022The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a...
BACKGROUND
The thumbs of patients with Apert syndrome are characteristically short and radially deviated, contributing to functional hand impairment. The authors report a two-staged technique for distraction lengthening of the Apert thumb using a robust cohort of pediatric patients.
METHODS
The authors retrospectively reviewed medical records of pediatric patients with Apert syndrome who underwent thumb distraction lengthening between 1999 and 2019. The technique was two-staged: (1) application of uniplanar distractor and phalangeal osteotomy, followed by (2) distractor removal, bone grafting, and fixation. Clinical records, preoperative and postoperative radiographs, and photographs were reviewed.
RESULTS
Twenty-two patients (41 thumbs) with Apert syndrome were identified and treated (mean age at initial distraction, 11.5 years). A mean distraction gap of 31.3 mm was achieved over a median time of 40.0 days. The mean healing index was 26.3 days per centimeter. The thumbnail complex was lengthened a median length of 3.0 mm. The median follow-up time was 5.0 years, with complications occurring in 36.4 percent (eight out of 22) of patients. A delayed bone union occurred in one patient, and rotational malunion occurred in one patient.
CONCLUSION
Although long-term outcomes data are needed, thumb distraction lengthening following syndactyly release in patients with Apert syndrome is safe and should be considered to augment the overall appearance and functionality of the hand.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Therapeutic, IV.
Topics: Acrocephalosyndactylia; Child; Finger Phalanges; Hand; Humans; Osteogenesis, Distraction; Retrospective Studies; Thumb
PubMed: 35157629
DOI: 10.1097/PRS.0000000000008929 -
Plastic and Reconstructive Surgery Aug 1997
Topics: Acrocephalosyndactylia; Humans; Syndrome; Terminology as Topic
PubMed: 9252628
DOI: 10.1097/00006534-199708000-00044 -
Annals of Plastic Surgery Nov 2019From infancy to adulthood, the mandible develops increased ramus height, prominence of the chin, and laterally widened gonial angles. In Crouzon and Apert syndromes,...
BACKGROUND
From infancy to adulthood, the mandible develops increased ramus height, prominence of the chin, and laterally widened gonial angles. In Crouzon and Apert syndromes, both relative retrognathia and prognathic jaws have been reported. Growth is influenced by a variety of factors, including the growth and relative position of the skull base, functional coordination, and the spatial influence of the laryngopharynx. Thus, this study aimed to explore in detail the evolution of the mandible in both syndromes and its relationship with the entire facial structure and skull base.
METHODS
One hundred twenty-three preoperative computed tomographic scans (Crouzon, n = 36; Apert, n = 33; control, n = 54) were included and divided into 5 age subgroups. Computed tomographic scans were measured using Materialise software. Cephalometrics relating to the mandible, facial structures, and cranial base were collected. Statistical analyses were performed using t test and statistical power analysis.
RESULTS
In Crouzon syndrome, the angle between the cranial base and gnathion was increased prior to 6 months of age by 10.29 degrees (P < 0.001) and by adulthood to 11.95 degrees (P = 0.003) compared with normal. After 6 months of age, the distance between bilateral mandibular condylions (COR-COL) was narrower by 15% (P < 0.001) in Crouzon syndrome compared with control subjects. Before 6 months of age, Apert COR-COL decreased 16% (P < 0.001) compared with control subjects and 13% (P = 0.006) narrower than Crouzon. During 2 to 6 years of age, Apert mandibular ramus height caught up to, and became longer than, Crouzon by 12% (P = 0.011). The nasion-sella-articulare angle of the Apert skull was 5.04 degrees (P < 0.001) less than Crouzon overall.
CONCLUSIONS
In Crouzon syndrome, the changes of the spatial relationship of the mandible to the cranial base develop earlier than the mandibular shape deformity, whereas in Apert syndrome, the spatial and morphological changes are synchronous. The morphological changes of the mandible are disproportional in 3 directions, initially significant shortening of the mandibular width and length, and, subsequently, reduced height. Crouzon has more shortening in mandibular height compared with Apert, reflecting the more shortened posterior cranial base length. The narrowed angle between the mandible and the posterior cranial base in Apert skulls is consistent with the more limited nasopharyngeal and oropharyngeal airway space.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Cephalometry; Child; Child, Preschool; Craniofacial Dysostosis; Female; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Mandible; Middle Aged; Tomography, X-Ray Computed; Young Adult
PubMed: 31008788
DOI: 10.1097/SAP.0000000000001811 -
Child's Nervous System : ChNS :... Sep 2012Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the...
INTRODUCTION
Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during embryonic development, and the brain.
DISCUSSION
Mouse models of both of these two causative mutations and a third rare splice mutation have been created and display many of the phenotypes typical of Apert syndrome. The molecular and cellular mechanisms underlying Apert phenotypes have begun to be elucidated, and proof-of-principle treatment of these phenotypes by chemical inhibitor and gene-based therapies has been demonstrated.
Topics: Acrocephalosyndactylia; Animals; Disease Models, Animal; Genotype; Humans; Mice; Mutation; Phenotype; Receptor, Fibroblast Growth Factor, Type 2
PubMed: 22872267
DOI: 10.1007/s00381-012-1872-z -
Plastic and Reconstructive Surgery Apr 2020Apert syndrome causes normal or enlarged intracranial volume overall as patients grow. This study aimed to trace the segmental anterior, middle, and posterior cranial...
BACKGROUND
Apert syndrome causes normal or enlarged intracranial volume overall as patients grow. This study aimed to trace the segmental anterior, middle, and posterior cranial fossae volume and structural morphology in these patients, to help discern a more focused and individualized surgical treatment plan for patients with Apert syndrome.
METHODS
This study included 82 preoperative computed tomographic scans (Apert, n = 32; control, n = 50) divided into five age-related subgroups. The scans were measured using image processing and three-dimensional modeling software.
RESULTS
The middle cranial fossa volume was increased and was the earliest change noted. It was increased by 45 percent (p = 0.023) compared with controls before 6 months of age and remained increased into adulthood (161 percent, p = 0.016), with gradually increasing severity. The anterior and posterior cranial fossae volumes also increased, by 35 percent (p = 0.032) and 39 percent (p = 0.007), respectively. Increased depth of cranial fossae contributed most to the increase in volumes of patients with Apert syndrome, with correlation coefficients of 0.799, 0.908, and 0.888 for anterior, middle, and posterior cranial fossa, respectively. The intracranial volume was increased 12 percent (p = 0.098) across the entire test age range (0 to 26 years old), but only had statistical significance during the age range of 6 to 18 years (22 percent, p = 0.001).
CONCLUSIONS
Malformation of the middle cranial fossa is an early, perhaps the initial, pivotal cranial morphologic change in Apert syndrome. Increased cranial fossae depth is an inherent characteristic of the maldevelopment. Normalization of cranial volume and circumference overall may not achieve a normal skull structure, as it does not correct regional craniocerebral disproportion.
Topics: Acrocephalosyndactylia; Adolescent; Case-Control Studies; Cephalometry; Child; Child Development; Child, Preschool; Female; Humans; Image Processing, Computer-Assisted; Infant; Infant, Newborn; Male; Organ Size; Patient Care Planning; Retrospective Studies; Skull Base; Tomography, X-Ray Computed; Young Adult
PubMed: 32221226
DOI: 10.1097/PRS.0000000000006679 -
The Journal of Craniofacial SurgeryApert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss...
INTRODUCTION
Apert syndrome is a multisystem genetic disorder typically characterized by craniosynostosis and syndactyly. Studies also report an increased incidence of hearing loss in children with Apert syndrome in comparison to the general population. The aim of this study was to gain an understanding of the inner ear radiological anatomical variations seen in children with Apert syndrome and correlate these with audiological outcomes.
MATERIALS AND METHODS
This was a retrospective review of computed tomography imaging of patients with Apert syndrome. Radiological images were examined for anatomical variations in inner ear structures. These were correlated with audiological testing.
RESULTS
Nineteen patients were included in the study. The most commonly observed anomaly was an absent bony window of the lateral semi-circular canal (SCC) in 11 patients (58%), followed by an enlarged lateral SCC in 12 patients (63%). This combination of anomalies was seen collectively in 42% of patients and together these give the appearance of a 'rectangular vestibular cavity'. Audiological results were available in 11 patients and 9 of these patients had a conductive hearing loss.
CONCLUSION
To the authors' knowledge, this is the first study that reports radiological findings alongside audiological testing in Apert syndrome and describes the appearance of a 'rectangular vestibular cavity'.
Topics: Acrocephalosyndactylia; Child; Craniosynostoses; Ear, Inner; Hearing Loss; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Humans; Retrospective Studies
PubMed: 35275865
DOI: 10.1097/SCS.0000000000008636