Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature

• Published in: Romanian journal of morphology and embryology Vol. 55; no. 1; pp. 209 - 213
• Main Authors: Ţarcă, Elena, Plămădeală, Petru, Savu, Bogdan
• Format: Journal Article
• Language: English
• Published: Romania 2014
• Subjects: Abnormalities, Multiple - pathology; Calcinosis - complications; Calcinosis - pathology; Chromosomes, Human, Pair 18; Ear, External - abnormalities; Heart Defects, Congenital - complications; Heart Defects, Congenital - pathology; Hematopoiesis; Hernia, Umbilical - complications; Hernia, Umbilical - pathology; Humans; Hyperplasia; Jaw Abnormalities - complications; Male; Microstomia - complications; Trisomy - pathology; Trisomy 18 Syndrome
• ISSN: 1220-0522

Trisomy 18 or Edwards syndrome is a rare chromosomal anomaly, associated with mild to severe intellectual disabilities and multiple congenital anomalies. Trisomies 18 and 13 are lethal, only 5-10% of patients surviving the first year of life. Although prenatal biological and ultrasound investigations are mandatory and free and the detection rate of chromosomal abnormalities is high, the birth of children with no real chance at a normal life being thus avoided by therapeutic abortion, the parents of the here presented child did not benefit from medical examination or prenatal tests, unfortunately the case of many families in Romania. The policy of limiting medical intervention in newborns with Edwards syndrome due to the broad spectrum of severe congenital malformations, severe mental retard and reduced life expectancy is unanimously accepted, but yet difficult to apply from an ethical point of view. That is why very important for both healthcare providers and families to have accurate and detailed knowledge of survival, disease course, and quality of life so that they can make fully informed decisions regarding care of these babies. The particularity of this case is the association of multiple congenital anomalies in a male newborn with trisomy 18, almost all apparata and systems being affected, with the presence of an omphalocele and complete right labiopalatine cleft, which are less frequent at children with trisomy 18.