title: Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis.
abstract: 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.
authors.affiliation: Ultrasound and Fetal Physiopathology Unit, Department of Obstetrics and Gynecology, Hospital Universitario 12 de Octubre, Madrid, Spain. carmenarb@terra.es
authors.forename: J
authors.initials: J
authors.lastname: Arbués
authors.forename: A
authors.initials: A
authors.lastname: Galindo
authors.forename: J M
authors.initials: JM
authors.lastname: Puente
authors.forename: M García
authors.initials: MG
authors.lastname: Vega
authors.forename: M
authors.initials: M
authors.lastname: Hernández
authors.forename: P
authors.initials: P
authors.lastname: de la Fuente
mesh_terms: 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