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Recognition of Patau Syndrome (Trisomy 13) Based on Clinical Features in a Resource-Limited Setting: A Case Report
Sayed Hussain Amiri1, Nasir Ahmad Anwari2, Dawood Hossaini3
1Department of Paraclinic, Faculty of Curative Medicine Shifa University Kabul Afghanistan.
Abstract:
Patau syndrome (trisomy 13) is a life-limiting chromosomal disorder with multiple congenital anomalies. We report a term male neonate with bilateral cleft lip and palate, aplasia cutis congenita, postaxial polydactyly, hypotonia, congenital heart disease, and presumed neonatal sepsis. Clinical diagnosis was made without cytogenetic confirmation; the infant died on day five.
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