Wieringa JE1,2*, Jiskoot M1, Marcelis C3, de Leeuw N3, de Winter JP2,3,4 and Gardeitchik T3
1Department of Neonatology, Radboud University Medical Center, Amalia Children’s Hospital, The Netherlands
2Department of Pediatrics, Spaarne Gasthuis, The Netherlands
3Department of Human Genetics, Radboud University Medical Center, The Netherlands
4Leuven Child and Youth Institute, KU Leuven, Belgium
5Department of Development and Regeneration, KU Leuven, Belgium
Objective: We present the first case of bronchial anomalies and laryngomalacia in a patient with a large 4q13.1q21.23 deletion and a review of the literature. Case Report: Our patient was born after a pregnancy that was complicated by fetal growth restriction at 30 weeks gestational age. His birth weight was below the 3rd percentile (-2 SD). He had multiple facial dysmorphisms. An inspiratory stridor was noted and deep desaturations for which he was referred to the neonatal intensive care unit. He was started on continuous positive airway pressure. Laryngo- and bronchoscopy showed a laryngeal cleft grade I, a functional relevant laryngomalacia, a right sided tracheal bronchus and very proximal branching in the major bronchi. A CT thorax confirmed the abnormal branching of the bronchi. Cerebral ultrasound revealed a mega cisterna magna and partial atresia of the corpus callosum. The trio WES analysis in the patient revealed a 24.1 Mb de novo, interstitial deletion in 4q13.1q21.3 of the paternal allele of chromosome 4 (GRch37: chr4:62,383,011-86,491,865), encompassing more than a hundred protein-coding genes and including the 1.37 M critical region of the 4q21 microdeletion syndrome. In literature no other patients with a 4q deletion have been described with bronchial abnormalities. Conclusion: We present a patient with a 4q13.1q21.23 deletion and severe respiratory disease due to laryngomalacia and a tracheal bronchus. The respiratory anomalies in our patient add to the phenotypic spectrum of deletions in this region. Unexplained respiratory symptoms in patients with a 4q deletion could point to tracheal anomalies, suggesting that respiratory imaging could be indicated.
Wieringa JE, Jiskoot M, Marcelis C, de Leeuw N, de Winter JP, Gardeitchik T. Laryngeal Cleft as Presentation of a 4q13.1q21.23 Deletion. Ann Clin Case Rep. 2022; 7: 2249..