Prenatal diagnosis of type A1 brachydactyly.
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.
den Hollander
N S
NS
Departments of Obstetrics and Gynaecology and Clinical Genetics, University Hospital Rotterdam-Dijkzigt, Rotterdam, The Netherlands. denhollander@gyna.azr.nl
Hoogeboom
A J
AJ
Niermeijer
M F
MF
Wladimiroff
J W
JW
D000328:Adult; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D005500:Follow-Up Studies; D005528:Foot; D005820:Genetic Testing; D005865:Gestational Age; D006225:Hand; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal