title: Prenatal diagnosis of type A1 brachydactyly.
abstract: 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.
authors: Departments of Obstetrics and Gynaecology and Clinical Genetics, University Hospital Rotterdam-Dijkzigt, Rotterdam, The Netherlands. denhollander@gyna.azr.nl
authors: N S
authors: NS
authors: den Hollander
authors: A J
authors: AJ
authors: Hoogeboom
authors: M F
authors: MF
authors: Niermeijer
authors: J W
authors: JW
authors: Wladimiroff
mesh_terms: 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