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Abstract

FAMILIAL DEGENERATIVE NEUROPATHY IN TWO SUCCESSIVE GENERATIONS AND THREE FEMALE FETUSES

Dinu-Florin Albu, Ana Maria Cristina Tancu, Stefan-Dimitrie Albu, Maria-Angelica Bencze, Cristina-Crenguta Albu* and Marina Imre

ABSTRACT

We hereby present a familial pluri-dysmorphism characterized through a unique association of malformations: facial dysmorphism, central nervous system (CNS) congenital anomalies, hand deformities, and cytomegalial myocardial cells. The case of familial pluri-dysmorphism has been present for two successive generations, being encountered both in the mother, as well as in all her three female pregnancies, situation in which the diagnosis was established both prenatally, through ultrasound examination, and postnatally, confirmed anatomical-pathologically.

Keywords: facial dysmorphism, central nervous system anomalies, hand deformities, cytomegalial myocardial cells, ultrasound examination, prenatal diagnosis.


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