Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies

• Main Authors: Edgardo Corral, Andres Barrios, Monica Isnard, Pascale Saugier-Veber, Sophie M. Fortier, Sarah Durrin, Waldo Sepulveda
• Format: Article
• Language: English
• Published: Hindawi Limited 2015-01-01
• Series: Case Reports in Obstetrics and Gynecology
• Online Access: http://dx.doi.org/10.1155/2015/561713

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.