Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn

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Abstract

The paper describes a case study of a rare combination of the two above-mentioned genetic syndromes with familial incidence (Fig. 4) diagnosed prenatally in a newborn with a complicated perinatal history. The actual case report and the attached photographic documentation emphasize the presence of typical clinical symptoms for individual diseases.

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Pomahačová, T., Dort, J., Matas, M., Kepková, M., Mocková, A., Huml, M., & Šubrt, I. (2020). Noonan syndrom with multiple lentigines and congenital myotonic dystrophy type 1 in a newborn. Pediatrie pro Praxi, 21(1), 45–48. https://doi.org/10.36290/PED.2020.012

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