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Prenatal diagnosis of type A1 brachydactyly
Author(s) -
Den Hollander N. S.,
Hoogeboom A. J. M.,
Niermeijer M. F.,
Wladimiroff J. W.
Publication year - 2001
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2001.00428.x
Subject(s) - brachydactyly , medicine , anatomy , prenatal diagnosis , fetus , pregnancy , pediatrics , genetics , biology , short stature
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. Copyright © 2001 International Society of Ultrasound in Obstetrics and Gynecology