Prenatal diagnosis of Conradi's syndrome. Case report.
A case is described of the diagnosis by ultrasound scanning during the second trimester of Conradi-Hünermann's syndrome (asymmetrical rhizomelic limb shortening or chondrodysplasia calcificans punctata). The prenatal diagnosis of limb shortening deformities is discussed.
Tuck
S M
SM
Royal Free Hospital, London, U.K.
Slack
J
J
Buckland
G
G
D000328:Adult; D002806:Chondrodysplasia Punctata / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005269:Femur / Q000002:abnormalities; D006801:Humans; D006811:Humerus / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography