Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Tonni, Gabriele; Grisolia, Gianpaolo; Baldi, Maurizia; Bonasoni, Maria Paola; Ginocchi, Vladimiro; Rôlo, Líliam Cristine; Júnior, Edward Araujo

doi:10.1080/15513815.2020.1775732

Fetal and Pediatric Pathology

2020

DOI: 10.1080/15513815.2020.1775732

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Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Gabriele Tonni

Gianpaolo Grisolia

Maurizia Baldi

et al.

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Cited by 2 publications

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Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome

Varlas,

Epistatu,

Varlas

2024

Diagnostics

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Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling.

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Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome

Varlas,

Epistatu,

Varlas

2024

Diagnostics

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Cleft Palate in Apert Syndrome

Willie

Holmes

Jabs

et al. 2022

JDB

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Apert syndrome is a rare genetic disorder characterized by craniosynostosis, midface retrusion, and limb anomalies. Cleft palate occurs in a subset of Apert syndrome patients. Although the genetic causes underlying Apert syndrome have been identified, the downstream signaling pathways and cellular mechanisms responsible for cleft palate are still elusive. To find clues for the pathogenic mechanisms of palatal defects in Apert syndrome, we review the clinical characteristics of the palate in cases of Apert syndrome, the palatal phenotypes in mouse models, and the potential signaling mechanisms involved in palatal defects. In Apert syndrome patients, cleft of the soft palate is more frequent than of the hard palate. The length of the hard palate is decreased. Cleft palate is associated most commonly with the S252W variant of FGFR2. In addition to cleft palate, high-arched palate, lateral palatal swelling, or bifid uvula are common in Apert syndrome patients. Mouse models of Apert syndrome display palatal defects, providing valuable tools to understand the underlying mechanisms. The mutations in FGFR2 causing Apert syndrome may change a signaling network in epithelial–mesenchymal interactions during palatogenesis. Understanding the pathogenic mechanisms of palatal defects in Apert syndrome may shed light on potential novel therapeutic solutions.

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Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Cited by 2 publications

References 12 publications

Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome

Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome

Cleft Palate in Apert Syndrome

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