PubMed · 1976 · 61 citations · 0 references
Life SciencesGeneticsObstetricsCytogeneticsEmbryologyHuman GeneticsAneuploidyChromosomal AbnormalitiesCongenital Cranial AnomaliesCongenital DisordersCongenital MalformationsGenetic DisordersAneuploid SyndromeAneuploidy In Developmental DisordersChromosomal Disorders In NeonatesDysplastic LesionsFetal Chromosomal AbnormalitiesPlacenta AnatomySyndromic Congenital DisordersSyndromic Craniofacial Disorders
The clinical syndrome associated with triploidy is quite typical but is rarely reported in near-term stillborns and newborns. The occurrence of a large placenta with areas of hydatidiform changes in combination with an edematous fetus with macroglossia, facial clefts, eye defects, dysplastic cranial bones, omphalocele, meningomyelocele, syndactyly, and, in males, genital maldevelopment is suggestive of a triploid chromosomal constitution.