First-trimester diagnosis of thrombocytopenia-absent radius syndrome using virtual reality

Clin Dysmorphol. 2014 Apr;23(2):71-73. doi: 10.1097/MCD.0000000000000029.

Authors

Leonie Baken¹, Irene A L Groenenberg, Adriana J M Hoogeboom, Anton H J Koning, Niek Exalto

Affiliation

¹ Department of Obstetrics and Gynaecology, Division of Obstetrics and Prenatal Medicine Departments of Clinical Genetics Bioinformatics, Erasmus MC, University Medical Center Rotterdam, The Netherlands.

PMID: 24556603
DOI: 10.1097/MCD.0000000000000029

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / physiopathology
Adult
Chromosome Deletion
Chromosomes, Human, Pair 1 / genetics
Congenital Bone Marrow Failure Syndromes
Female
Humans
Megalencephaly / genetics*
Megalencephaly / physiopathology
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis*
Radius / physiopathology
Thrombocytopenia / diagnosis
Thrombocytopenia / genetics*
Thrombocytopenia / physiopathology*
Upper Extremity Deformities, Congenital / diagnosis
Upper Extremity Deformities, Congenital / genetics*
Upper Extremity Deformities, Congenital / physiopathology*

Supplementary concepts

Absent radii and thrombocytopenia
Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb