title: Trisomy 18 mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period.
abstract: The study describes a dysmorphic newborn infant with life-threating anomaly, later diagnosed as trisomy 18, mimicking Smith-Lemli-Opitz syndrome in the immediate neonatal period. The establishment of the correct diagnosis in the first days of life is very important for the decision-making process, because trisomy 18 has a poor prognosis, and treatment is not instituted, whereas cholesterol supplementation may be of benefit to patients with Smith-Lemli-Opitz syndrome. Ultraviolet spectrophotometry showed very easy and rapid method for differentiation of both syndromes, where gas chromatography/mass spectrometry analysis is not available. (Fig. 2, Ref: 18.)
authors: First Department of Pediatrics, Comenius University Children's Hospital, Bratislava, Slovakia. bzduch@inmail.sk
authors: V
authors: V
authors: Bzduch
authors: D
authors: D
authors: Behulova
authors: L
authors: L
authors: Pevalova
authors: F
authors: F
authors: Cisarik
authors: M
authors: M
authors: Benedekova
mesh_terms: D002887:Chromosomes, Human, Pair 18; D003937:Diagnosis, Differential; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis*; D014314:Trisomy / Q000175:diagnosis*