Title
Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
Publication Date
2014
Journal Title
Ultrasound Obstet Gynecol
Abstract
We report the prenatal findings in two cases of Beals syndrome. Both pregnancies presented with clinical features of arthrogryposis multiplex congenita/fetal akinesia syndrome (AMC/FAS), including clenched fists and multiple joint contractures on repeat prenatal ultrasound examinations. The first case was diagnosed as having Beals syndrome on physical examination shortly after birth and the diagnosis was confirmed by DNA analysis, shown as a point mutation in the fibrillin 2 (FBN2) gene. The second case was diagnosed with Beals syndrome following microarray analysis on amniocytes, which showed a deletion of the FBN2 gene. Although most cases with AMC/FAS carry a poor prognosis, Beals syndrome is consistent with normal cognitive development and a better prognosis. Thus, making the correct diagnosis is crucial, both pre- and postnatally, for accurate counseling and management. Copyright (C) 2014 ISUOG. Published by John Wiley & Sons Ltd.
Volume Number
44
Issue Number
4
Pages
486-490
Document Type
Article
Status
Faculty
Facility
School of Medicine
Primary Department
Obstetrics and Gynecology
PMID
DOI
10.1002/uog.13350