[Diagnosis of Edwards syndrome in newborns].
Congenital malformations most useful for the diagnosis of trisomy 18 in the first days of life were defined based on observations of newborns with Edwards syndrome treated at the Child Health Center in 1992-1994. Intrauterine growth retardation, facial skeleton dysmorphy, congenital heart malformation, mainly VSD, extremity malformations, especially of the palms and feet found in the newborn suggest a diagnosis of Edwards syndrome. The need to differentially diagnose trisomy 18 with autosomal recessive syndrome TAR, Roberts and Smith-Lemli-Opitz is stressed.
Dunin-Wasowicz
D
D
Oddział Patologii Noworodka i Niemowlecia Centrum Zdrowia Dziecka w Warszawie.
Krajewska-Walasek
M
M
Rowecka-Trzebicka
K
K
Gurkau-Malecha
M
M
Gutkowska
A
A
Chrzanowska
K
K
D000015:Abnormalities, Multiple / Q000209:etiology*; D002887:Chromosomes, Human, Pair 18; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D005532:Foot Deformities, Congenital / Q000209:etiology; D006228:Hand Deformities, Congenital / Q000209:etiology; D006330:Heart Defects, Congenital / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014314:Trisomy
Diagnostyka zespołu Edwardsa u noworodków--obserwacje własne.