Campomelic syndrome: manifestations in a 20 week fetus and case history of a 5 year old child.
We report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.
Gillerot
Y
Y
Department of Human Genetics, Institut de Morphologie Pathologique, Loverval, Belgium.
Vanheck
C A
CA
Foulon
M
M
Podevain
A
A
Koulischer
L
L
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D012734:Disorders of Sex Development; D005260:Female; D005315:Fetal Diseases; D005865:Gestational Age; D006801:Humans; D011247:Pregnancy; D012120:Respiration Disorders; D013577:Syndrome