2 results match your criteria: "Department of Pediatrics Chitwan Medical College Bharatpur Nepal.[Affiliation]"
This case report presents a rare occurrence of 49,XXXXY syndrome in a 14-month-old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge, broad nose, low-set ears, and clinodactyly, along with genital anomalies like micropenis and small testes. Neurologically, he demonstrated generalized hypotonia and global developmental delay.
View Article and Find Full Text PDFHealth Sci Rep
March 2021
Division of Respirology, Department of Medicine McMaster University Hamilton Ontario Canada.