A unique case of CHARGE syndrome with craniosynostosis
In this article, we would like to report a unique case of CHARGE syndrome and craniosynostosis in a child heterozygous for CHD7 mutation. CHARGE syndrome has been associated with multiple congenital abnormalities; however, to the best of our knowledge, an association between genetically confirmed CHARGE and craniosynostosis has not been previously reported. We believe that this unique phenotype serves as an exciting illustration of the interrelation of CHARGE syndrome with other syndromes exhibiting overlapping phenotypes, occasionally including craniosynostosis.
This baby boy was born by spontaneous vaginal delivery at 34 weeks of gestation and was clinically diagnosed with CHARGE syndrome shortly after birth. Following transfer to our hospital, he underwent successful surgical repair of esophageal atresia. Postnatal examination also revealed evidence of delayed visual maturation, severe left hearing loss, global developmental delay, hypotonia, micropenis, and athymic...
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Conflict of interest
The authors have no conflicts of interest to disclose.
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