Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?
We report on two infants born at term with amelia/phocomelia and a striking appearance with facial hemangiomas and micrognathia. The upper limbs were absent and the lower limbs were extremely short, containing only a tibia; the phocomelic feet lacked one to four lateral rays. There was no known teratogen exposure and the infants were born in different regions of the USA. This may be considered an unusually symmetrical and rare form of FFU dysostosis, or a separate entity.
Kardon
N B
NB
Lenox Hill Hospital, New York, NY.
Dana
L P
LP
FitzGerald
J M
JM
Opitz
J M
JM
D004480:Ectromelia / Q000145:classification* / Q000175:diagnosis / Q000000981:diagnostic imaging; D005269:Femur / Q000002:abnormalities*; D005360:Fibula / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities*