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Plastic and Reconstructive Surgery.... May 2024Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support...
Children with congenital disorders are unfortunate collateral victims of wars and natural disasters. Improved diagnosis could help organize targeted medical support campaigns. Patient identification is a key issue in the management of life-threatening conditions in extreme situations, such as in oncology or for diabetes, and can be challenging when diagnosis requires biological or radiological investigations. Dysmorphology is a central element of diagnosis for craniofacial malformations, with high sensibility and specificity. Massive amounts of public data, including facial pictures circulate daily on news channels and social media, offering unique possibilities for automatic diagnosis based on facial recognition. Furthermore, AI-based algorithms assessing facial features are currently being developed to decrease diagnostic delays. Here, as a case study, we used a facial recognition algorithm trained on a large photographic database to assess an online picture of a family of refugees. Our aim was to evaluate the relevance of using an academic tool on a journalistic picture and discuss its potential application to large-scale screening in humanitarian perspectives. This group picture featured one child with signs of Apert syndrome, a rare condition with risks of severe complications in cases of delayed management. We report the successful automatic screening of Apert syndrome on this low-resolution picture, suggesting that AI-based facial recognition could be used on public data in crisis conditions to localize at-risk patients.
PubMed: 38756957
DOI: 10.1097/GOX.0000000000005780 -
Archives of Gynecology and Obstetrics Jul 2022Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim...
PURPOSE
Syndromic craniosynostosis is a rare genetic disease caused by premature fusion of one or multiple cranial sutures combined with malformations of other organs. The aim of this publication is to investigate sonographic signs of different syndromic craniosynostoses and associated malformations to facilitate a precise and early diagnosis.
METHODS
We identified in the period of 2000-2019 thirteen cases with a prenatal suspected diagnosis of syndromic craniosynostosis at our department. We analyzed the ultrasound findings, MRI scans, genetic results as well as the mode of delivery, and postnatal procedures.
RESULTS
Eight children were diagnosed with Apert Syndrome, two with Saethre Chotzen syndrome, one with Crouzon syndrome, and one with Greig cephalopolysyndactyly syndrome. One child had a mutation p.(Pro253Leu) in the FGFR2 gene. We identified characteristic changes of the head shape as well as typical associated malformations.
CONCLUSION
Second trimester diagnosis of syndromic craniosynostosis is feasible based on the identified sonographic signs. In case of a suspected diagnosis a genetic, neonatal as well as surgical counseling is recommended. We also recommend to offer a fetal MRI. The delivery should be planned in a perinatal center.
Topics: Acrocephalosyndactylia; Child; Craniosynostoses; Diagnosis, Differential; Female; Humans; Infant, Newborn; Magnetic Resonance Imaging; Mutation; Pregnancy
PubMed: 34633507
DOI: 10.1007/s00404-021-06263-9 -
International Journal of Dentistry 2023Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures. This...
OBJECTIVE
Individuals with syndromic craniosynostosis present alterations in the dental arches due to anomalies caused by the early fusion of the craniomaxillary sutures. This study aimed to compare intradental and interdental dimensions between individuals with Apert and Crouzon syndromes and nonsyndromic controls.
MATERIALS AND METHODS
Digital models were obtained from the archive of a public tertiary care hospital. The sample consisted of 34 patients (Apert = 18, Crouzon = 16) and 34 nonsyndromic controls matched for gender and age. Measurements of perimeter, length, intercanine and intermolar distances (upper and lower), overjet, and molar ratio were performed. Statistical comparisons were performed using ANOVA and Tukey tests ( < 0.05).
RESULTS
Patients with Apert and Crouzon syndromes have severely reduced maxillary transverse dimensions, perimeter, and length of the upper arch compared to the control group ( < 0.001). The lower arch is less impacted. Patients with Apert syndrome had an anterior crossbite ( < 0.001), while patients with Crouzon syndrome had an edge-to-edge bite ( < 0.011). Patients with Apert and Crouzon syndromes do not have serious transverse proportion problems when comparing the upper and lower arches.
CONCLUSIONS
In this sample, both the Apert and Crouzon groups have severely compromised upper arches compared to the control group. Mild dentoalveolar expansion in the maxilla should be sufficient for the transverse adaptation of the dental arches before frontofacial advancement.
PubMed: 36647423
DOI: 10.1155/2023/1043369 -
Eye (London, England) May 2022To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes. (Review)
Review
OBJECTIVE
To determine visual outcomes and prevalence of amblyogenic risk factors in children with Apert, Crouzon, Pfeiffer and Saethre-Chotzen syndromes.
METHODS
We conducted a single-centre, retrospective chart review of patients assessed at our unit between October 2000 and May 2017. Our outcome measures were as follows: age at first and last examination, refraction, horizontal ocular alignment, alphabet pattern deviations, anterior segment appearance, fundus examination findings, visual evoked potentials (VEPs) and genetics. The study's primary endpoint was the proportion of children achieving best-corrected visual acuity (BCVA) ≥ 6/12 in the better eye at final visit, as per UK driving standards.
RESULTS
165 patients were included in this study. Breakdown of diagnoses was as follows: Crouzon (n = 60), Apert (n = 57), Pfeiffer (n = 14) and Saethre-Chotzen (n = 34). 98 patients were male. Of 133 patients with full BCVA data available, 76.7% achieved BCVA ≥ 6/12 in the better eye. Of 122 patients, anisometropia >1.00 dioptre sphere (DS) affected 18.9% and astigmatism ≥1.00DS in at least one eye affected 67.2%. Of 246 eyes, 48.4% had oblique astigmatism. Of 165 patients, 60 had exotropia and 12 had esotropia. 48 of 99 patients demonstrated 'V' pattern. On multivariable logistic regression, nystagmus (p = 0.009) and ON involvement (p = 0.001) were associated with decreased vision in the worse eye. Normal VEPs were associated with better BCVA (p = 0.036).
CONCLUSION
There was a high prevalence of amblyogenic factors, however, the majority achieved BCVA ≥ 6/12 in their better eye. Optic neuropathy and nystagmus had the most significant impact on vision. VEPs can help the in overall assessment of visual function.
Topics: Acrocephalosyndactylia; Astigmatism; Child; Craniosynostoses; Evoked Potentials, Visual; Eye Diseases; Female; Humans; Male; Retrospective Studies
PubMed: 33972704
DOI: 10.1038/s41433-021-01458-5 -
Dermatology Practical & Conceptual Oct 2020The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease. (Review)
Review
BACKGROUND
The skin is often seen as a world apart, but not rarely do cutaneous manifestations reveal signs of systemic disease.
OBJECTIVES
The aim of this review is to include in one paper all the possible correlations between nephrological and dermatological manifestations of the same disease in pediatric patients while also keeping in mind that in apparent exclusively dermatological diseases there can be nephrological manifestations as part of the same disorder and vice versa.
METHODS
We searched on PubMed for a possible link between skin and kidney matching the following terms and correlated MeSH terms: dermatology, skin, kidney, renal disease, nephrology, pediatrics, child, childhood, vasculitis, and cancer. We selected only articles reporting a link between nephrology and dermatology in pediatrics, and they are all included in this comprehensive review.
RESULTS
Kawasaki disease, Henoch-Schönlein purpura, systemic lupus erythematosus, Dent disease, subcutaneous fat necrosis, Langerhans cell histiocytosis, renal cell carcinoma, non-Hodgkin lymphoma, tuberous sclerosis complex and syndromes with increased risk for Wilms tumor, Fabry disease, nail-patella syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Adams-Oliver syndrome 1, Apert syndrome, Fanconi pancytopenia syndrome, Pallister-Hall syndrome, and Fanconi pancytopenia syndrome are all conditions in which there can be both nephrological and dermatological manifestations in children.
CONCLUSIONS
We could not find any reports that focused attention on the link between nephrological and dermatological manifestations of the same disease in children. It is also important for clinicians to keep in mind that in what may appear to be an exclusively dermatological disease, there can be nephrological manifestations as part of the same disorder and vice versa.
PubMed: 33150036
DOI: 10.5826/dpc.1004a95 -
BMJ Case Reports Mar 2022The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and...
The management of patients with Apert syndrome (AS) is complex and reflects the multisystem disease as a result of premature fusion of cranial vault, cranial base and midface sutures as well as extremity anomalies characterised by syndactyly. Early cranial sutural fusion results in craniocerebral disproportion which can lead to crisis surgical intervention due to raised intracranial pressure, ophthalmic and compromised airway concerns. Childhood inventions are often determined by psychosocial concerns and adult surgical interventions are often determined by cosmetic concerns. Treatments are provided by many different specialists within multidisciplinary teams (MDT). The treatment pathway extends from birth well into adulthood and is often associated with a heavy burden of care. Due to the extensive nature of the interaction with these patients MDT members have opportunities to provide enhanced patient-centred care and support.This case report provides an overview of the current knowledge of the aetiology of AS, illustrates the pathway of surgical and non-surgical management of AS and provides a long-term review of the dentofacial treatment outcomes.By having a better understanding of the impact of AS and treatment provided, MDT members can not only provide improved clinical treatment but also offer improved patient experiences for those with craniofacial anomalies, in particular, an increased awareness of the psychosocial challenges they endure.
Topics: Acrocephalosyndactylia; Adult; Child; Cranial Sutures; Craniofacial Abnormalities; Face; Humans; Skull Base
PubMed: 35236672
DOI: 10.1136/bcr-2021-245224 -
Plastic and Reconstructive Surgery.... May 2023Apert syndrome is characterized by eyelid dysmorphology, V-pattern strabismus, extraocular muscle excyclorotation, and elevated intracranial pressure (ICP). We compare...
Orbital and Eyelid Characteristics, Strabismus, and Intracranial Pressure Control in Apert Children Treated by Endoscopic Strip Craniectomy versus Fronto-Orbital Advancement.
UNLABELLED
Apert syndrome is characterized by eyelid dysmorphology, V-pattern strabismus, extraocular muscle excyclorotation, and elevated intracranial pressure (ICP). We compare eyelid characteristics, severity of V-pattern strabismus, rectus muscle excyclorotation, and ICP control in Apert syndrome patients initially treated by endoscopic strip craniectomy (ESC) at about 4 months of age versus fronto-orbital advancement (FOA) performed about 1 year of age.
METHODS
Twenty-five patients treated at Boston Children's Hospital met inclusion criteria for this retrospective cohort study. Primary outcomes were magnitude of palpebral fissure downslanting at 1, 3, and 5 years of age, severity of V-pattern strabismus, rectus muscle excyclorotation, and interventions to control ICP.
RESULTS
Before craniofacial repair and through 1 year of age, none of the studied parameters differed for FOA versus ESC treated patients. Palpebral fissure downslanting became statistically greater for those treated by FOA by 3 ( < 0.001) and 5 years of age ( = 0.001). Likewise, severity of palpebral fissure downslanting correlated with severity of V-pattern strabismus at 3 ( = 0.004) and 5 ( = 0.002) years of age. Palpebral fissure downslanting and rectus muscle excyclorotation were typically coexistent ( = 0.053). Secondary interventions to control ICP were required in four of 14 patients treated by ESC (primarily FOA) and in two of 11 patients initially treated by FOA (primarily third ventriculostomy) ( = 0.661).
CONCLUSIONS
Apert patients initially treated by ESC had less severe palpebral fissure downslanting and V-pattern strabismus, normalizing their appearance. Thirty percent initially treated by ESC required secondary FOA to control ICP.
PubMed: 37180985
DOI: 10.1097/GOX.0000000000004937 -
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 -
BMJ Case Reports Dec 2019Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2...
Apert syndrome is a rare genetic disorder that manifests as craniosynostosis, craniofacial and limb dysmorphic features. Mutations in fibroblast growth factor receptor 2 (FGFR2) gene account for almost all cases. Given the impact it can have throughout life, prenatal management becomes a challenge. A healthy 33-year-old woman, gravida 4, para 0, was referred to routine ultrasound at 22 weeks of gestation. Atypical cranial morphology with prominent forehead, ocular proptosis, hypertelorism and mitten hands were detected. Genetic investigation revealed an FGFR2 gene mutation (c.755C>G(p.Ser252Trp)), confirming the diagnosis. Magnetic resonance showed brachycephaly, turricephaly and cortical malformation. Following counselling, parents requested medical termination of pregnancy. Macroscopic features were consistent with ultrasound findings. This case emphasises the importance of early diagnosis to provide the best family counselling and prenatal management. A multidisciplinary team, consisting of an obstetrician with ultrasonography experience, a medical geneticist and a fetal pathologist, should conduct these cases.
Topics: Abortion, Therapeutic; Acrocephalosyndactylia; Adult; DNA Mutational Analysis; Female; Genetic Counseling; Humans; Infant, Newborn; Karyotyping; Mutation, Missense; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 31822532
DOI: 10.1136/bcr-2019-231982 -
Romanian Journal of Ophthalmology 2023Apert Syndrome (AS) is a rare form of acrocephalosyndactyly. The aim of the manuscript was to underline the challenging squint management in a case of Apert Syndrome. A...
Apert Syndrome (AS) is a rare form of acrocephalosyndactyly. The aim of the manuscript was to underline the challenging squint management in a case of Apert Syndrome. A 1.5-year-old male with craniosynostosis, diagnosed at birth, with history of incomplete closure of eyes, more so in the right eye, and squinting of left eye since birth, was brought to eye OPD by the mother. Presence of acrocephaly, prominent forehead with bony irregularity, chin down with left head tilt, fused cervical vertebrae, marked proptosis, cleft palate, dental anomaly and syndactyly confirmed the diagnosis of AS. Old serial photographs of the child were examined to look for progression of squint and proptosis. Squint evaluation revealed 70-75 PD exotropia with 10PD right hypertropia in primary gaze. The right hypertropia increased further in the left gaze, whereas a left hypertropia was noted in the right gaze. The patient underwent bilateral LR recession of 9 mm with full muscle width transposition (upshift) with Inferior Oblique recession of 4:1 mm in the right eye and 3:2 mm in the left eye. Post-operative follow-up after 2 months showed that V pattern collapsed with residual exotropia of 20 PD. Post-operative follow-up after 1 year showed improvement in head posture with pattern collapsed. However, recurrent exotropia was noted on evaluation, for which bilateral medial recti resection was done later. The management of squint in AS and other craniosynostosis poses a multitude of challenges for the ophthalmologists. Frequent follow-ups are needed in patients with AS for the timely management of its ocular manifestations and better visual rehabilitation.
PubMed: 37522017
DOI: 10.22336/rjo.2023.35