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

24585410

DOI

10.1002/uog.13350