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International Journal of Dermatology Nov 2006Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety...
Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.
Topics: Acrocephalosyndactylia; Adolescent; Adult; Humans; Keratoderma, Palmoplantar; Nail Diseases; Syndactyly
PubMed: 17076721
DOI: 10.1111/j.1365-4632.2006.02745.x -
Clinics in Plastic Surgery Apr 1991
Topics: Acrocephalosyndactylia; Humans
PubMed: 2065484
DOI: No ID Found -
Journal of the Indian Society of... 2020Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and...
Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. We report a case of 13-year-old boy in India presenting features of AS such as exophthalmos, hypertelorism, strabismus, steep forehead, parrot beak nose, depressed nasal bridge, and retruded middle third of the face. The purpose of this report is to present a case of AS by highlighting the craniofacial characteristics.
Topics: Acrocephalosyndactylia; Adolescent; Humans; India; Male; Syndrome
PubMed: 33402629
DOI: 10.4103/JISPPD.JISPPD_434_20 -
BMC Musculoskeletal Disorders Nov 2020Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as... (Review)
Review
BACKGROUND
Apert syndrome is characterised by the presence of craniosynostosis, midface retrusion and syndactyly of hands and feet, thus, synonymously referred to as acrocephalosyndactyly type I. Considering these multidisciplinary issues, frequently requiring surgical interventions at an early age, deformities of the feet have often been neglected and seem to be underestimated in the management of Apert syndrome. Typical Apert foot features range from complete fusion of the toes and a central nail mass to syndactyly of the second to fifth toe with a medially deviated great toe; however, no clear treatment algorithms were presented so far. This article reviews the current existing literature regarding the treatment approach of foot deformities in Apert syndrome.
STATE-OF-THE-ART TOPIC REVIEW
Overall, the main focus in the literature seems to be on the surgical approach to syndactyly separation of the toes and the management of the great toe deformity (hallux varus). Although the functional benefit of syndactyly separation in the foot has yet to be determined, some authors perform syndactyly separation usually in a staged procedure. Realignment of the great toe and first ray can be performed by multiple means including but not limited to second ray deletion, resection of the proximal phalanx delta bone on one side, corrective open wedge osteotomy, osteotomy of the osseous fusion between metatarsals I and II, and metatarsal I lengthening using gradual osteodistraction. Tarsal fusions and other anatomical variants may be present and have to be corrected on an individual basis. Shoe fitting problems are frequently mentioned as indication for surgery while insole support may be helpful to alleviate abnormal plantar pressures.
CONCLUSION
There is a particular need for multicenter studies to better elaborate surgical indications and treatment plans for this rare entity. Plantar pressure measurements using pedobarography should be enforced in order to document the biomechanical foot development and abnormalities during growth, and to help with indication setting. Treatment options may include conservative means (i.e. insoles, orthopedic shoes) or surgery to improve biomechanics and normalize plantar pressures.
LEVEL OF EVIDENCE
Level V.
Topics: Acrocephalosyndactylia; Foot Deformities; Hand; Humans; Metatarsal Bones; Osteotomy
PubMed: 33248465
DOI: 10.1186/s12891-020-03812-2 -
Revue Medicale de Liege Oct 2021Apert syndrome, or acrocephalosyndactilia type I, is a rare genetic disorder caused by mutations in the FGFR2 gene and characterized by craniosynostosis, craniofacial...
Apert syndrome, or acrocephalosyndactilia type I, is a rare genetic disorder caused by mutations in the FGFR2 gene and characterized by craniosynostosis, craniofacial dysmorphia and symmetrical syndactyly of the hands and feet. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. This syndrome presents significant clinical variability and its early diagnosis is essential. We report an isolated case of Apert syndrome, diagnosed during follow-up of a biamniotic bichorium twin pregnancy.
Topics: Acrocephalosyndactylia; Craniosynostoses; Female; Humans; Mutation; Pregnancy; Receptor, Fibroblast Growth Factor, Type 2; Syndactyly
PubMed: 34632738
DOI: No ID Found -
Plastic and Reconstructive Surgery Mar 2020
Topics: Acrocephalosyndactylia; Humans
PubMed: 32097354
DOI: 10.1097/PRS.0000000000006596 -
The Journal of Craniofacial SurgeryPresenting a wide clinical spectrum and large variety of clinical features, successful treatment of Apert syndrome necessitates performance of sequential multiple...
BACKGROUND
Presenting a wide clinical spectrum and large variety of clinical features, successful treatment of Apert syndrome necessitates performance of sequential multiple surgeries before a patient's facial skeleton growth is complete.The objective of this study is to compare forehead contour asymmetry and clinical outcomes between Apert patients who underwent either fronto-orbital advancement (FOA) or posterior vault distraction osteogenesis (PVDO).
METHODS
A retrospective study was performed on consecutive patients with Apert syndrome who underwent either FOA or PVDO between 2007 and 2019, and participated in at least 6 months of follow-up care. Forehead contour asymmetry and surgical outcomes for each of the included patients were verified through medical records, clinical photographs, and interviews with the parents of the patients. The need for additional craniofacial procedures based on the surgical outcomes of each patient was graded from I to IV utilizing the Whitaker outcome classification system.
RESULTS
Forehead contour asymmetry for all included patients was rated under the Whitaker grading scale as type II (n = 4) 44.4%, type III (n = 2) 22.2%, and type IV (n = 3) 33.3% for FOA, and type I (n = 5) 35.7%, type II (n = 7) 50%, and type III (n = 2) 14.3%, for PVDO (P < 0.05). The average transfused blood volume was 47.77 ± 9.42 mL/kg for patients who underwent FOA, and 22.75 ± 10.31 mL/kg for patients who underwent PVDO (P < 0.05).
CONCLUSIONS
Patients who underwent PVDO had lower forehead contour asymmetry as per the Whitaker outcome grading scale than patients who underwent FOA.
Topics: Acrocephalosyndactylia; Craniosynostoses; Humans; Infant; Osteogenesis, Distraction; Retrospective Studies; Skull
PubMed: 34261966
DOI: 10.1097/SCS.0000000000007959 -
Child's Nervous System : ChNS :... Aug 1993This paper discusses 33 cases of Apert's syndrome which were treated in the Australian Craniofacial unit at the adelaide Children's Hospital. The main features were...
This paper discusses 33 cases of Apert's syndrome which were treated in the Australian Craniofacial unit at the adelaide Children's Hospital. The main features were discussed. We found that mild ventricular dilatation is common in Apert's syndrome but without associated raised intracranial pressure. Severe ventricular dilatation was seen in only one case. No shunt procedures were performed. We also studied the changes in the ventricular size after transcranial corrective procedures. There was no significant change in the ventricular size, the increase in the skull volume was compensated by expansion of the brain tissue and to some extent by increase in the subarachnoid space. Two cases with unusual features are also described.
Topics: Acrocephalosyndactylia; Cephalometry; Cerebral Ventricles; Craniotomy; Female; Follow-Up Studies; Humans; Hydrocephalus; Infant; Male; Tomography, X-Ray Computed
PubMed: 8252521
DOI: 10.1007/BF00306277 -
Birth Defects Original Article Series 1974
Topics: Abnormalities, Multiple; Acrocephalosyndactylia; Adolescent; Child, Preschool; Craniosynostoses; Face; Female; Humans; Palate; Syndrome; Tooth Abnormalities
PubMed: 4469992
DOI: No ID Found -
Dermatology Online Journal Mar 2005
Topics: Acrocephalosyndactylia; Child; Humans; Hyperhidrosis; Male
PubMed: 15748556
DOI: No ID Found