Triploidy

Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.

Micrognathia

Developmental hypoplasia of the mandible.


合計: 1

                       


（表示件数）
PMID (PMCID)
6264378
 MALE Infant, Newborn
Diploid-triploid mixoploidy: clinical and cytogenetic aspects.
Graham JM Jr, Hoehn H, Lin MS, Smith DW.
Pediatrics. 1981;68(1):23-8.
Triploidy results in a clinically recognizable lethal syndrome with hydatidiform placental changes, severe intrauterine growth deficiency, dysplastic cranial bones, eye defects, cleft lip and/or, palate malformed ears, micrognathia, syndactyly, genital anomalies and, rarely, spina bifida.