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.

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Ultrasound in Obstetrics and Gynecology
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