Multiple Congenital Anomalies in a Filipino Infant with Trisomy X Syndrome
DOI:
https://doi.org/10.47895/amp.v42i2.2431Keywords:
trisomy X syndrome, developmental delay, facial dysmorphism, congenital heart diseaseAbstract
We present a Filipino infant with 47,XXX karyotype with multiple congenital anomalies consisting of cranial abnormalities, hypotonia, dysmorphic facies and hypoplastic right heart syndrome. This case provides additional data to the syndrome’s limited phenotypic spectrum of defects described in previously reported cases.