Split hand and foot malformation: ultrasound detection in the first trimester.
The split hand split foot malformation is a rare disorder inherited in an autosomal dominant pattern with variable expression. In our case it was detected early by ultrasound in the twelfth week of gestation. To our knowledge, this is the earliest finding by ultrasound of this malformation. The sonographic findings were bilateral split hands and split foot. No other associated malformation was observed. The pathological findings were consistent with the diagnosis of split hand split foot malformation. Prenatal diagnosis, the genetic background, and the differential diagnosis are discussed.
Lapaire
O
O
Universitäts-Frauenklinik Basel, Basel, Switzerland. olapaire@uhbs.ch
Schiesser
M
M
Peukert
R
R
Holzgreve
W
W
Tercanli
S
S
D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000379:methods*