Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies
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 prenatal...
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2015/561713 |
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| author | Edgardo Corral Andres Barrios Monica Isnard Pascale Saugier-Veber Sophie M. Fortier Sarah Durrin Waldo Sepulveda |
| author_facet | Edgardo Corral Andres Barrios Monica Isnard Pascale Saugier-Veber Sophie M. Fortier Sarah Durrin Waldo Sepulveda |
| author_sort | Edgardo Corral |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e4ff97e3c4cd4b2c888cb2900beb0e6b |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-e4ff97e3c4cd4b2c888cb2900beb0e6b2025-02-03T06:08:37ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922015-01-01201510.1155/2015/561713561713Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic StudiesEdgardo Corral0Andres Barrios1Monica Isnard2Pascale Saugier-Veber3Sophie M. Fortier4Sarah Durrin5Waldo Sepulveda6Prenatal Ultrasound Unit, Department of Obstetrics and Gynecology, Regional Hospital, University Diego Portales, Rancagua, ChilePediatric Neurology Unit, Department of Pediatrics, Regional Hospital, Rancagua, ChileFetal Medicine Unit, Mulhouse Hospital, Mulhouse, FranceDepartment of Genetics, Rouen University Hospital, Rouen, FranceFetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, ChileFetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, ChileFetalmed-Maternal-Fetal Diagnostic Center, Las Condes, Santiago, ChileX-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.http://dx.doi.org/10.1155/2015/561713 |
| spellingShingle | Edgardo Corral Andres Barrios Monica Isnard Pascale Saugier-Veber Sophie M. Fortier Sarah Durrin Waldo Sepulveda Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies Case Reports in Obstetrics and Gynecology |
| title | Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies |
| title_full | Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies |
| title_fullStr | Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies |
| title_full_unstemmed | Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies |
| title_short | Prenatal Three-Dimensional Ultrasound Detection of Adducted Thumbs in X-Linked Hydrocephaly: Two Case Reports with Molecular Genetic Studies |
| title_sort | prenatal three dimensional ultrasound detection of adducted thumbs in x linked hydrocephaly two case reports with molecular genetic studies |
| url | http://dx.doi.org/10.1155/2015/561713 |
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