Am J Perinatol 2004; 21(1): 41-44
DOI: 10.1055/s-2004-820509
Copyright © 2004 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA

Congenital Contractural Arachnodactyly and Femoral Fracture in a Newborn Infant: A Causal Relationship or a Coincidence?

Serhan Küpeli1 , Ayşe Korkmaz1 , Almıla Bulun1 , Murat Yurdakök1 , Ergül Tunçbilek1
  • 1Department of Pediatrics, Hacettepe University İhsan Doğramacı Children's Hospital, Ankara, Turkey
Further Information

Publication History

Publication Date:
11 March 2004 (online)

Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. Although it is a connective tissue disorder affecting bone structure and formation, coexistence of bony fractures in CCA patients have not been reported before. In this article we report a newborn infant diagnosed with CCA who developed a femoral fracture possibly due to abnormal bone structure and birth injury in spite of cesarean delivery.

REFERENCES

  • 1 Jones K L. Beals Syndrome. In: Jones KL Smith's Recognizable Patterns of Human Malformation, 5th ed. Philadelphia; W.B. Saunders 1997: 476-477
  • 2 Viljoen D. Congenital contractural arachnodactyly (Beals syndrome).  J Med Genet. 1994;  31 640-643
  • 3 Beals R K, Hecht F. Congenital contractural arachnodactyly: a heritable disorder of connective tissue.  J Bone Joint Surg Am. 1971;  53 987-993
  • 4 Su P H, Hou J W, Hwu W L, Wu M H, Wang J K, Wang T R. Congenital contractural arachnodactyly (Beals syndrome).  Acta Paediatr Taiwan. 2000;  41 59-62
  • 5 Currarino G, Friedman J M. A severe form of congenital contractural arachnodactyly in two newborn infants.  Am J Med Genet. 1986;  25 763-773
  • 6 Cole T R, Hughes H E. Congenital contractural arachnodactyly with unilateral lower limb deficiency.  Am J Med Genet. 1992;  44 72-74
  • 7 Gupta P A, Putnam E A, Carmical S G et al.. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.  Hum Mutat. 2002;  19 39-48
  • 8 Belleh S, Zhou G, Wang M, Der Kaloustian V M, Pagon R A, Godfrey M. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.  Am J Med Genet. 2000;  92 7-12
  • 9 Ramirez F, Pereira L. The fibrillins.  Int J Biochem Cell Biol. 1999;  31 255-259
  • 10 Belleh S, Spooner L, Allanson J, Godfrey M. Prenatal diagnosis in congenital contractural arachnodactyly.  Genet Test. 1997-98;  1 293-296
  • 11 Bhat B V, Kumar A, Oumachigui A. Bone injuries during delivery.  Indian J Pediatr. 1994;  61 401-405
  • 12 Nadas S, Gudinchet F, Capasso P, Reinberg O. Predisposing factors in obstetrical fractures.  Skeletal Radiol. 1993;  22 195-198
  • 13 Morris S, Cassidy N, Stephens M, McCormack D, McManus F. Birth associated femoral fractures: incidence and outcome.  J Pediatr Orthop. 2002;  22 27-30
  • 14 Mangurten H H. Birth injuries. In: Fanaroff AA, Martin JM Neonatal-Perinatal Medicine Diseases of the Fetus and Newborn Infant, 7th ed. Vol 1 St. Louis; Mosby 2002: 460-487
  • 15 Alexander J, Gregg J E, Quinn M W. Femoral fractures at cesarean section: case reports.  Br J Obstet Gynaecol. 1987;  94 273
  • 16 Vasa R, Kim M R. Fracture of the femur at cesarean section: case report and review of literature.  Am J Perinatol. 1990;  7 46-48
  • 17 Diamond L S, Alegado R. Perinatal fractures in arthrogryposis multiplex congenita.  J Pediatr Orthop. 1981;  1 189-192

Ayşe KorkmazM.D. 

Kıbrıs Sk. No. 1/18

A. Ayrancı 06690, Ankara, Turkey

    >