Pseudo-trisomy 13 syndrome with upper limb shortness and radial hypoplasia.
We report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated "pseudo-trisomy 13 syndrome." Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo-trisomy 13 syndrome, or may represent a distinct entity.
Boles
R G
RG
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.
Teebi
A S
AS
Neilson
K A
KA
Meyn
M S
MS
D001132:Arm / Q000002:abnormalities*; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13; D003937:Diagnosis, Differential; D005260:Female; D016142:Holoprosencephaly / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014314:Trisomy