title: Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies.
abstract: X-linked hydrocephaly is a rare sex-linked genetic recessive condition occurring in 1/30,000 deliveries. Adduction of thumbs and mental retardation are additional associated clinical findings. We describe two cases of X-linked hydrocephaly with associated adducted thumbs that were diagnosed prenatally with the combined use of three-dimensional (3D) ultrasound and fetal blood sampling for cytogenetic and molecular analyses. This report suggests that 3D ultrasound can facilitate the identification of adducted thumbs in fetuses affected by X-linked hydrocephaly and supports evaluation of the fetal hands as an integral part of the ultrasound anatomical assessment in male fetuses with hydrocephaly secondary to aqueductal stenosis.
authors.affiliation: Prenatal Ultrasound Unit, Department of Obstetrics and Gynecology, Regional Hospital, University Diego Portales, Rancagua, Chile.
authors.forename: Edgardo
authors.initials: E
authors.lastname: Corral
authors.affiliation: Pediatric Neurology Unit, Department of Pediatrics, Regional Hospital, Rancagua, Chile.
authors.forename: Andres
authors.initials: A
authors.lastname: Barrios
authors.affiliation: Fetal Medicine Unit, Mulhouse Hospital, Mulhouse, France.
authors.forename: Monica
authors.initials: M
authors.lastname: Isnard
authors.affiliation: Department of Genetics, Rouen University Hospital, Rouen, France.
authors.forename: Pascale
authors.initials: P
authors.lastname: Saugier-Veber
authors.affiliation: Fetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile.
authors.forename: Sophie M
authors.initials: SM
authors.lastname: Fortier
authors.affiliation: Fetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile.
authors.forename: Sarah
authors.initials: S
authors.lastname: Durrin
authors.affiliation: Fetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile.
authors.forename: Waldo
authors.initials: W
authors.lastname: Sepulveda