The unique case of prenatal diagnostics of Pierre Robin syndrome of the fetus with clonic cramps. Clinical aspects

Gordienko I. Yu., Avramenko T. V., Shevchenko A. A., Tarapurova O. M., Grebinichenko G. O. 
SI «Institute of Pediatrics, Obstetrics and Gynecology NAMS of Ukraine», Kyiv

The paper presents basic information about Pierre Robin syndrome as rare genetic pathology with a focus on the specific diagnostic and clinical aspects. It was grounded the necessity of the timely prenatal and postnatal diagnosis for the evaluation of wellbeing of fetus, newborn and child and possibility for subsequent adequate treatment. There were described two clinical cases: prenatal diagnostics of Pierre Robin syndrome in the fetus with clonic cramps, and case of Pierre Robin syndrome and multiple anomalies of central nervous system in two years old patient. Especially dangerous displays are certain pathologies that result in fatal outcomes.

Key words: Pierre Robin syndrome, prenatal diagnostics, clinical diagnostics, pictures, treatment, children.

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