[Triploidy: prompt diagnosis based on typical clinical signs in a live-born extremely low birth-weight infant].
A child with complete triploidy is rarely born alive. However, owing to the advances in perinatal medicine even extremely immature preterm infants receive full support in the delivery room and are admitted to the neonatal ICU. Consequently, the clinician may also have to consider the diagnosis of triploidy when faced with a dysmorphic extremely preterm infant. We report here the smallest described live born girl of 25 + 5 weeks of gestational age with typical clinical findings of complete triploidy phenotype II. The aim of the case report is to make the neonatologist aware of this syndrome using photographs of this case as well as discussing the literature available. Prompt clinical diagnosis confirmed by chromosome analysis helps doctors and parents with the decision whether to continue promising or to limit futile life support measures.
Sektion Neonatologie und pädiatrische Intensivmedizin der Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm.
E
E
Kühlwein
D
D
Steinbach
G
G
Barbi
F
F
Pohlandt
H
H
Hummler
D002869:Chromosome Aberrations; D005260:Female; D005317:Fetal Growth Retardation / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D019102:Infant, Very Low Birth Weight; D018743:Perinatal Care / Q000379:methods; D011123:Polyploidy