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.
KEYWORDS
Congenital contractural arachnodactyly - bone fracture - newborn
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