Exencephaly in Autosomal-Dominant Brachydactyly Syndrome

Stagiannis, KD, Sepulveda, W, Fusi, L, Garrett, C and Fisk, NM (1995) Exencephaly in Autosomal-Dominant Brachydactyly Syndrome. Prenatal Diagnosis, 15 1: 70-73. doi:10.1002/pd.1970150115


Author Stagiannis, KD
Sepulveda, W
Fusi, L
Garrett, C
Fisk, NM
Title Exencephaly in Autosomal-Dominant Brachydactyly Syndrome
Journal name Prenatal Diagnosis   Check publisher's open access policy
ISSN 0197-3851
Publication date 1995-01-01
Year available 1995
Sub-type Other
DOI 10.1002/pd.1970150115
Open Access Status Not yet assessed
Volume 15
Issue 1
Start page 70
End page 73
Total pages 4
Place of publication W SUSSEX
Publisher JOHN WILEY & SONS LTD
Language eng
Abstract Exencephaly was diagnosed at 17 weeks in a 27-year-old primigravida with abnormalities of the hands and a family history suggestive of autosomal dominant brachydactyly and clinodactyly. In this family there was also a history of 'anencephaly'. To our knowledge, this is the first report on the association of exencephaly and autosomal dominant brachydactyly. As the relationship between hand and cranial anomalies is well established, we suggest that this association in our case could be due to a defect in the same gene.
Keyword Exencephaly
Acrania
Brachydactyly Clinodactyly
Prenatal Diagnosis
Ultrasonography
Phocomelia Syndrome
Prenatal-Diagnosis
Fetal Acrania
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Other
Collection: ResearcherID Downloads - Archived
 
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