Branchial arch anomalies in trisomy 18.
The authors report two newborns and one fetus with trisomy 18, who have severe anomalies of the first branchial arch: extreme microtia with imperforate external meatus in two cases, and hemifacial microsomia in a third one. Those cases point to the huge phenotypic variability of the trisomy 18.
Verloes
A
A
Centre for Human Genetics, CHU Sart Tilman, Liégen, Belgium.
Seret
N
N
Bernier
V
V
Gonzales
M
M
Herens
C
C
Koulischer
L
L
D000015:Abnormalities, Multiple / Q000235:genetics*; D001934:Branchial Region / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D005313:Fetal Death / Q000235:genetics; D006257:Head / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D014314:Trisomy