Abstract
Objective
To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients.
Methods
All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal.
Results
Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy. Five were stillborn and two died during the early neonatal period; all of whom presented with multiple defects. Three of the live born patients and one stillborn with multiple defects had Fanconi anemia. RRAs carry a high perinatal mortality rate (47%) when they occur in association with other defects.
Conclusions
The assessment of these patients needs to involve the combined use of ultrasound, clinical, genetic, cytogenetic and molecular testing. The present results indicate that the chromosome breakage test should always be performed to rule out Fanconi anemia in this group.
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Acknowledgments
The authors thank the parents of the patients for participating in the study and health professionals of the Radiology and Pathology Department.
Contributions
RS-M: Study design, data acquisition and wrote the manuscript; MA: Data acquisition, study design, wrote the manuscript, coordinated the study and will act as guarantor for the paper; AM: Data acquisition, and helped to write the manuscript; GR: Genetics studies; BM: Performed the chromosome breakage test and reviewed the final manuscript; SF: Reviewed the patients information, corrected the final manuscript and collaborated in the writing process; PG: Data acquisition.
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Sevilla-Montoya, R., Aguinaga, M., Martínez, A. et al. Heterogeneous Diagnoses Underlying Radial Ray Anomalies. Indian J Pediatr 84, 200–205 (2017). https://doi.org/10.1007/s12098-016-2270-4
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DOI: https://doi.org/10.1007/s12098-016-2270-4