Patau Syndrome: Genetic Disorder Clinically Diagnosed Under Limited Resources at Singida Regional Referral Hospital

Abstract

Amedeus L Mushi, Patrick Ng'unda, Roza Majengo, Rukia Ibrahim, Leonidas Chano

Introduction: Patau syndrome or trisomy 13 is genetic disorder clinically characterized by the presence of numerous malformations with a limited survival rate for most cases. It is characterized by the cardinal triad of orofacial clefts, microphthalmia and postaxial polydactyly of the limbs and non-cyanotic heart defects. This article will create awareness of capturing all birth defect in country so as to know the magnitude of this problem.

Case Description: A 6 hours baby boy delivered at gestation age 32 weeks by 36 years woman was referred from a lower health facility with diagnosis of cleft lip has several congenital anomalies.

Discussion: Diagnosis of patau syndrome based on the clinical manifestation, phenotypes and the genetic. This case was managed to be diagnosed by clinical manifestation and phenotype. The presence of features provides more confidence of concluding the condition as patau syndrome. Parents deny referral due to poor prognosis although the medical counseling was provided which is not genetic counseling as developed countries.

Conclusion: Capacity building to health practitioners in identifying and diagnosing patau syndrome should be done to all health facilities levels

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