Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis.
Ectrodactyly is a rare dominant autosomal malformation with variable expression. Herein we report a case early diagnosed by ultrasound at 15 weeks of gestation of isolated ectrodactyly involving the four limbs. The sonographic findings were bilateral split hands and split foot. Diagnosis of typical isolated ectrodactyly was pathologically confirmed. Clinical forms, pathogenesis, differential diagnosis, and early prenatal diagnosis are discussed.
Arbués
J
J
Ultrasound and Fetal Physiopathology Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre, Madrid, Spain. carmenarb@terra.es
Galindo
A
A
Puente
J M
JM
Vega
M García
MG
Hernández
M
M
de la Fuente
P
P
D000028:Abortion, Induced; D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal