Trisomy 18

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

Microretrognathia

A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.


Total: 1

                      


(per page)
PMID (PMCID)
7418250
MIXED_SAMPLE Infant, Newborn
Trisomy 18q-. Trisomy mapping of chromosome 18 revisited.
Turleau C, Chavin-Colin F, Narbouton R, Asensi D, de Grouchy J.
Clin Genet. 1980;18(1):20-6.
The phenotype of trisomy 18q- resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less sever vital prognosis.