Is the Apert foot an overlooked aspect of this rare genetic disease? Clinical findings and treatment options for foot deformities in Apert syndrome

Abstract 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.

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Apert syndrom: a literature review and own clinical case

Ukrainian journal of Perinatology and Pediatrics ◽

10.15574/pp.2020.84.55 ◽

2020 ◽

pp. 55-58

Author(s):

V.M. Husiev ◽

◽

D.S. Khapchenkova ◽

V.E. Kleban ◽

◽

...

Keyword(s):

Prenatal Diagnosis ◽

Clinical Case ◽

Clinical Symptoms ◽

Proximal Phalanx ◽

Clinical Signs ◽

Clinical Manifestations ◽

Apert Syndrome ◽

Type I ◽

Hands And Feet ◽

Type V

Acrocephalosyndactyly (ACS) is a group of multiple malformations, the main clinical manifestations of which are acrocephaly and syndactyly. The most common forms are Apert (type I), Pfeiffer (type V), Setra–Hotzen (type II) syndromes. Apert syndrome is the most explored and common form of all types of ACS and Apert syndrome is estimated to occur in 1 in: 100 000 newborns. The syndrome is inherited in an autosomal dominant manner. If the gene is carried by one of the parents, the risk of having a child with Apert syndrome is 50%. The syndrome genome (FGFR2) is located on the long arm of chromosome 10 at locus 10q26. Apert syndrome occurs due to mutations at this locus, but the children karyotype is not changed. The pathognomonic clinical signs of Apert syndrome are craniofacial dysostosis and symmetrical syndactyly of the hands and feet. Acrocephaly («tower skull») — is a consequence of early synostosis of some sutures of the skull. Orbital hypertelorism and exophthalmos are referred to typical facial changes. Among other abnormalities there are heart and vascular defects (25%), cleft palate, malformations of the gastrointestinal tract and kidneys. The diagnosis is made on the basis of clinical symptoms. No treatment has been developed. Life expectancy is short. Purpose — to present a clinical case of a newborn with Apert syndrome. Clinical case. Apert syndrome was suspected prenatally, confirmed after birth. The newborn girl had the characteristic signs of the above-described pathology: «tower head», hypertelorism, saddle bridge of the nose, closed large fontanelle, phalanges of the first finger were wide, the proximal phalanx was triangular, complete cutaneous syndactyly of the II–IV fingers was observed symmetrical on both upper extremities; on the lower extremities — thickening of the proximal phalanges of the big toes, complete cutaneous syndactyly of the II–IV toes. Conclusions. The article describes a clinical case of a child with Apert syndrome. Prenatal diagnosis takes one of the leading places in confirming genetic abnormalities, determining the prognosis for life. Genetic counseling for parents is necessary and important at all stages of pregnancy planning. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of these Institutes. The informed consent of the patient was obtained for conducting the studies. No conflict of interest was declared by the authors. Key words: Apert syndrome, children, prenatal diagnosis.

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A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female

International Healthcare Research Journal ◽

10.26440/ihrj/0311.02318 ◽

2020 ◽

Vol 3 (11) ◽

pp. 352-354

Author(s):

Pooja Gaur

Keyword(s):

Case Report ◽

Clinical Care ◽

Open Bite ◽

Apert Syndrome ◽

Facial Features ◽

Type I ◽

Anterior Open Bite ◽

Rare Type ◽

Patient Reported ◽

Hands And Feet

Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

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Apert Syndrome: A Rare Genetic Disorder

Northern International Medical College Journal ◽

10.3329/nimcj.v11i2.54066 ◽

2021 ◽

Vol 11 (2) ◽

pp. 475-477

Author(s):

Mahmuda Hassan ◽

B H Nazma Yasmeen ◽

Masuma Khan ◽

Afsana Mukti

Keyword(s):

Genetic Disorder ◽

The Body ◽

Apert Syndrome ◽

Type I ◽

Fibroblast Growth Factor Receptors ◽

Rare Type ◽

Medical College ◽

Branchial Arches ◽

Maxilla And Mandible ◽

Hands And Feet

Apert syndrome is a rare type I acrocephalosyndactyly syndrome having autosomal dominant inheritance due to mutations in the fibroblast growth factor receptors gene. New or fresh mutations are also frequent. It is characterized by dysmorphic face, craniosynostosis, severe syndactyly of the hands and feet. Apert syndrome affects the first branchial or pharyngeal arch, the precursor of the maxilla and mandible. Disturbances in the development of branchial arches during fetal period create extensive malformation in different parts of the body. Management of Apert syndrome requires a multidisciplinary approach. We, hereby, report a case of a 45-days old baby with Apert syndrome. Northern International Medical College Journal Vol.11 (2) Jan 2020: 475-477

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Synpolydactyly of the Foot in Homozygotes

Journal of the American Podiatric Medical Association ◽

10.7547/0960297 ◽

2006 ◽

Vol 96 (4) ◽

pp. 297-304 ◽

Cited By ~ 2

Author(s):

Ilhami Kuru ◽

Gokhan Maralcan ◽

Aylin Yucel ◽

Fatma Aktepe ◽

Seval Turkmen ◽

...

Keyword(s):

Base Pair ◽

Foot Deformities ◽

Foot Deformity ◽

Great Toe ◽

Clinical Genetic ◽

The Past ◽

Genetic Patterns ◽

Hands And Feet

In 2002, we reinvestigated a large synpolydactyly kindred first described in 1995. It was found to have expanded with an increase in number of homozygous offspring. These homozygotes had severe hypoplasia, with synpolydactyly of their hands and feet. We present the clinical, genetic, and surgical findings of this deformity and the histologic findings of the removed bones of the heterozygous and homozygous members. There were 125 affected individuals (113 heterozygotes and 12 homozygotes) of 245 members of the past five generations. We identified seven marriages in which both spouses were affected. Twelve offspring from these marriages had homozygote genetic patterns, hypoplastic synpolydactyly of the hands, and a distinctive foot deformity, with a prominent great toe and syndactylized hypoplastic minor toes. From clinical and surgical perspectives, their hand and foot deformities were different from those of their parents. We surgically treated both feet of four individuals with this deformity, which we called “homozygote foot synpolydactyly.” Clinically, the deformity consisted of a supinated prominent great toe, hypoplastic and severely synpolydactylized minor toes, and secondary problems. Radiographically, the bones were underdeveloped, unshaped, and largely fused. Abundant cartilage covering the bones was observed surgically and histologically. Genetically, analysis of HOXD13 identified a 27–base pair duplication with a homozygote pattern. The foot deformity of the homozygotes was so distinctive and complicated that it should be considered a separate foot synpolydactyly type—homozygote foot synpolydactyly. (J Am Podiatr Med Assoc 96(4): 297–304, 2006)

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Computed tomography assessment of Apert syndrome

Brazilian Oral Research ◽

10.1590/s1806-83242004000100007 ◽

2004 ◽

Vol 18 (1) ◽

pp. 35-39 ◽

Cited By ~ 8

Author(s):

Marco Antônio Portela Albuquerque ◽

Marcelo Gusmão Paraíso Cavalcanti

Keyword(s):

Computed Tomography ◽

Three Dimensional ◽

Helical Ct ◽

Apert Syndrome ◽

Type I ◽

Midface Hypoplasia ◽

Developmental Disturbances ◽

Coronal Synostosis ◽

Hands And Feet ◽

Computed Tomograph

Apert syndrome, or acrocephalosyndactyly type I, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe developmental disturbances of the craniofacial region including bilateral coronal synostosis associated with midface hypoplasia, exophthalmia, hypertelorism, and symmetric syndactyly of the hands and feet. The aim of this study is to assess the clinical and computed tomography imaging patterns of non-operated patients with Apert syndrome, correlating the bone abnormalities of the cranium, face and the skull base. The study population consisted of 5 patients with Apert syndrome. As part of the craniofacial assessment of the imaging center's routine, all patients underwent clinical evaluation and CT (computed tomograph) exam. Three-dimensional images were generated from helical CT scans, using an independent workstation, to evaluate the craniofacial abnormalities of the syndrome. Clinical exam determined that syndactyly of the hands and feet, pseudocleft in the midline palate and midface hypoplasia were features observed in all of the Apert patients. 3D-CT showed that some abnormalities such as bilateral coronal synostosis, calvarial midline defect and reduction in the antero-posterior dimension of the anterior, medial and posterior cranial fossae were present in all cases. In conclusion, the correlation of clinical and CT imaging findings can be useful to assess the main features observed in Apert patients, improving the criteria for examining the patient and diagnosing this condition, and contributing to the therapeutic planning and surgical follow-up.

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Psoriatic Onycho-Pachydermo-Periostitis

Journal of Psoriasis and Psoriatic Arthritis ◽

10.1177/24755303211066089 ◽

2021 ◽

pp. 247553032110660

Author(s):

Susan Hesni ◽

Davoud Khodatars ◽

Richard Rees ◽

Monica Khanna ◽

Miny Walker

Keyword(s):

Psoriatic Arthritis ◽

Clinical Presentation ◽

Treatment Options ◽

Imaging Features ◽

Great Toe ◽

Unusual Condition ◽

Appropriate Treatment ◽

Nail Changes ◽

Common Clinical Presentation ◽

Hands And Feet

Psoriatic onycho-pachydermo-periostitis (POPP) is an unfamiliar and poorly recognised condition first described in 1989 by Fournie et al. It is a variant of psoriatic arthritis comprising the triad of onycholysis, soft tissue thickening and radiographically apparent periostitis. Whilst typically affecting the great toe, any of the digits of the hands and feet may be affected. A ‘drumstick’ appearance to the digits of the foot is the most common clinical presentation and can be extremely painful. Nail changes are another hallmark of POPP and can be mistakenly diagnosed as fungal infection leading to lengthy periods of incorrect treatment. In this article, we will outline the clinical presentation, imaging features, pathogenesis and treatment options for POPP. Currently, the existence of POPP is not widely known. Awareness of this unusual condition will allow early appropriate treatment and can aid in the diagnosis of indeterminate seronegative disease.

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Efficiency of diffusion-weighted MRI for differentiating radiologically similar simple and type I hydatid cysts of the liver

Acta Radiologica ◽

10.1177/0284185120988131 ◽

2021 ◽

pp. 028418512098813

Author(s):

Ilyas Dundar ◽

Mesut Ozgokce ◽

Fatma Durmaz ◽

Sercan Ozkacmaz ◽

Saim Turkoglu ◽

...

Keyword(s):

Treatment Options ◽

Type I ◽

Hydatid Cysts ◽

Liver Cysts ◽

Diffusion Weighted ◽

Significant Difference ◽

Mean Diameter ◽

Apparent Diffusion ◽

Adc Values ◽

Hepatic Lesions

Background Determining the nature of purely cystic hepatic lesions is essential because different kinds have different follow-ups, treatment options, and complications. Purpose To explore the potential of apparent diffusion coefficient (ADC) values of diffusion-weighted imaging (DWI) for the differentiation of type I hydatid cysts (HC) and simple liver cysts (SLC), which have similar radiological appearances. Material and Methods This single-center prospective study was conducted during 2016–2019. Round, homogenous, anechoic liver cysts >1 cm were classified according to at least two years of imaging follow-up, radiological features, serology, as well as puncture aspiration injection reaspiration procedure and pathology results. ADC values of 95 cysts (50 type I HCs and 45 SLCs) were calculated on DWI. The differences in ADC values were analyzed by independent t-test. Results Of 51 patients, 28 were female, 23 were male (mean age 32.07 ± 22.95 years; age range 5–82 years). Mean diameter of 45 SLCs was 2.59 ± 1.23 cm (range 1.2–7.6 cm) and ADCmean value was 3.03 ± 0.47 (range 2.64–5.85) while mean diameter of 50 type I HCs was 7.49 ± 2.95 cm (range 2.8–14 cm) and ADCmean value was 2.99 ± 0.29 (range 2.36–3.83). There was no statistically significant difference in ADC values between type I HCs and SLCs Conclusion Some studies report that ADC values of type I HCs are statistically significantly lower than those of SLCs. Others suggest no significant difference. In our study with a higher number of cases, using ADC parameters similar to those in previous studies, we did not find any statistically significant difference.

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Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph18137204 ◽

2021 ◽

Vol 18 (13) ◽

pp. 7204

Author(s):

Mirja Möhn ◽

Julia Camilla Bulski ◽

Norbert Krämer ◽

Alexander Rahman ◽

Nelly Schulz-Weidner

Keyword(s):

Case Reports ◽

Treatment Options ◽

Permanent Dentition ◽

Amelogenesis Imperfecta ◽

Structural Defects ◽

Type I ◽

Oral Rehabilitation ◽

Self Confidence ◽

Health Quality ◽

Masticatory System

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

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