A Study of Facial Pattern in Patients with Fanconi Anemia

Ávila, Lúcia Fátima de Castro; Martins, Wilson; Cândido, Lisiane; Ignácio, Sérgio Aparecido; Bonfim, Carmen; Ribas, Marina de Oliveira

doi:10.1597/11-321.1

The Cleft Palate Craniofacial Journal

2014

DOI: 10.1597/11-321.1

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A Study of Facial Pattern in Patients with Fanconi Anemia

Lúcia Fátima de Castro Ávila

Wilson Martins

Lisiane Cândido³

et al.

Abstract: Dolicofacial appearance was observed in 52% of individuals; braquifacial in 28%, and mesofacial in 20%. Significant maxillary/mandibular discrepancy was observed. It was concluded that upon anteroposterior evaluation of facial bone structures, the FA sample presented smaller median measurements in most variables evaluated; it also presented mandibular micrognathism and mainly dolicofacial vertical growth pattern. These findings, together with other features such as skin pigmentation and microphthalmia, may lea… Show more

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Cited by 6 publications

References 20 publications

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Dental management of Fanconi anemia: a rare congenital disorder

Dias,

Gupta,

Shreehari

2024

J Rare Dis

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Purpose Fanconi anemia is a rare inherited genetic disorder that is characterized by all three defective blood cell lines such as reduced red blood cells, platelets, and white blood cells. This makes the individual susceptible to spontaneous oral bleeding and prone to oral infections including periodontal diseases. Method Dental management of individuals with Fanconi anemia can be a difficult task as these individuals have a tendency for uncontrolled hemorrhage and infections after any simple dental procedure. This case report highlights the oral manifestations and management of the same in such individuals taking into consideration the complications in such rare diseases. Result In this case report, the individuals’ oral manifestations and spontaneous oral bleeding were successfully managed by preventive single-donor platelet transfusion, factor VII transfusion, and local tranexamic acid usage during the dental interventions along with parental counseling. Conclusion Fanconi anemia being a rare inherited disorder is often difficult to manage due to a lack of knowledge and awareness among the dental clinicians. This case report attempts in highlighting the same and spreading awareness among the clinicians.

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Dental management of Fanconi anemia: a rare congenital disorder

Dias,

Gupta,

Shreehari

2024

J Rare Dis

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Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Wenger

Earl

Chow

et al. 2016

The Journal of Pediatrics

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Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

et al. 2019

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Variants in DONSON were recently identified as the cause of microcephaly, short stature, and limb abnormalities syndrome (MISSLA). The clinical spectra of MISSLA and Fanconi anaemia (FA) strongly overlap. For that reason, some MISSLA patients have been clinically diagnosed with FA. Here, we present the clinical data of siblings with MISSLA featuring a novel DONSON variant and summarize the current literature on MISSLA. Additionally, we perform computer-aided image analysis using the DeepGestalt technology to test how distinct the facial features of MISSLA and FA patients are. We show that MISSLA has a specific facial gestalt. Notably, we find that also FA patients feature facial characteristics recognizable by computer-aided image analysis. We conclude that computer-assisted image analysis improves diagnostic precision in both MISSLA and FA.

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A Study of Facial Pattern in Patients with Fanconi Anemia

Cited by 6 publications

References 20 publications

Dental management of Fanconi anemia: a rare congenital disorder

Dental management of Fanconi anemia: a rare congenital disorder

Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

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