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Case Reports in Obstetrics and Gynecology
Volume 2015 (2015), Article ID 561713, 4 pages
http://dx.doi.org/10.1155/2015/561713
Case Report

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

1Prenatal Ultrasound Unit, Department of Obstetrics and Gynecology, Regional Hospital, University Diego Portales, Rancagua, Chile
2Pediatric Neurology Unit, Department of Pediatrics, Regional Hospital, Rancagua, Chile
3Fetal Medicine Unit, Mulhouse Hospital, Mulhouse, France
4Department of Genetics, Rouen University Hospital, Rouen, France
5Fetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, Chile

Received 23 March 2015; Accepted 7 May 2015

Academic Editor: Giovanni Monni

Copyright © 2015 Edgardo Corral et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.