Prenatal diagnosis of type A1 brachydactyly
Ultrasound in Obstetrics and Gynecology , Volume 17 - Issue 6 p. 529- 530
Brachydactyly can occur as an isolated malformation or as part of numerous syndromes. Prenatal assessment of brachydactyly may be especially helpful in multiple anomaly syndromes associated with hand and/or finger anomalies. In isolated type A1 brachydactyly, which is an autosomal dominant disorder, all middle phalanges of the fingers and toes are affected. We present a fetus with type A1 brachydactyly inherited from the mother and grandmother.
|Brachydactyly, Fetal anomaly scanning, Hand deformity, Prenatal diagnosis|
|Ultrasound in Obstetrics and Gynecology|
|Organisation||Department of Gynaecology & Obstetrics|
den Hollander, N.S, Hoogeboom, A.J.M, Niermeijer, M.F, & Wladimiroff, J.W. (2001). Prenatal diagnosis of type A1 brachydactyly. Ultrasound in Obstetrics and Gynecology, 17(6), 529–530. doi:10.1046/j.1469-0705.2001.00428.x