Avtor/Urednik		Neubauer, David; Kopač, Štefan
Naslov		A case of congenitalmyotonic dystrophy with hydrocephalus and infantile spasms
Tip		članek
Vir		Acta Cardiomiol
Vol. in št.		Letnik 8
Leto izdaje		1996
Obseg		str. 107-8
Jezik		eng
Abstrakt		A female newborn is presented whose mother and grandfather were known to have myotonic dystrophy. Despite this clear family history spontaneous preterm delivery occurred, resulting in perinatal hypoxia. Partly on account of this fact further complications have emerged and have resulted in severe handicap. The child has how profound developmental delay, severe epilepsy and shunted hydrocephalus. The question exists whether such a condition could be avoided with better antenatal care depending on certain available diagnostic procedures or was this just a severity of the disease which expressed itself with so many perinatal complications.
Deskriptorji		MYOTONIA CONGENITA HYDROCEPHALUS SPASMS, INFANTILE INFANT, NEWBORN EPILEPSY PRENATAL DIAGNOSIS