Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly.
Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome is an autosomal dominant disorder caused by mutations in the fibrillin-2 (FBN2) gene. The principal features of CCA are a marfanoid habitus, multiple congenital contractures, camptodactyly, arachnodactyly, kyphoscoliosis, muscular hypoplasia, and external ear malformations. Our case is the first that shows typical sonographic signs in a fetus at 25 weeks' gestation with molecular genetically verified CCA in a large family with many members affected over four generations. This demonstrates that CCA can be detected prenatally by non-invasive ultrasonography. The importance of confirmation of CCA by means of DNA sequence analysis of the FBN2 gene is stressed.
Kölble
N
N
Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koelble@fhk.usz.ch
Wisser
J
J
Babcock
D
D
Maslen
C
C
Huch
R
R
Steinmann
B
B
D000328:Adult; D002135:Calcium-Binding Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D000071840:Fibrillin-2; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000196:embryology / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
D002135:Calcium-Binding Proteins; C000605723:FBN2 protein, human; D000071840:Fibrillin-2; D000071837:Fibrillins; D008840:Microfilament Proteins