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. 2022 Nov 10;13:998675. doi: 10.3389/fendo.2022.998675

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Copyright © 2022 Huang, Chao and Lee

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Patient 4 with hypocalcemic seizures that started 6 days after birth, had facial dysmorphism and hearing impairments. The patient’s calcium level was 6.0 mg/dL (ion calcium, 0.63 mg/dL). (A) He had ambiguous genitalia (arrow), scrotal bifida with hypospadias, penoscrotal transposition, congenital heart disease with double outlet right ventricle, ventricular septal defect, atrial septal defect, and pulmonary stenosis. Chromosome study confirmed the ring chromosome 9 and Kleefstra syndrome. (B) His MRI exhibited hypoplasia of splenium part of corpus callosum (arrow).