The Syndrome of Caudal Dysplasia: a Review, Including Etiologic Considerations and Evidence of Heterogeneity

References

• Passarge E, Lenz W. Syndrome of caudal regression in infants of diabetic mothers: Observations of further cases. Pediatrics 1966; 37: 672–674
   PubMedGoogle Scholar
• Duhamel B. From the mermaid to anal imperforation: The syndrome of caudal regression. Arch Dis Child 1961; 36: 152–155
   PubMed Web of Science ®Google Scholar
• Hohl A F. Zur Pathologic des Beckons, L Das schräg-ovale Becken. Wilhelm Engelmann, Leipzig 1852; 61
   Google Scholar
• Blumel J, Evans K B, Eggers G W N. Partial and complete agenesis or malformation of the sacrum with associated anomalies. J Bone Joint Surg 1959; 41A: 497–518
   Google Scholar
• Smith D W. Recognizable Patterns of Human Malformation3d ed. Saunders, Philadelphia 1982; 486–487
   Google Scholar
• Mills J L. Malformations in infants of diabetic mothers. Teratology 1982; 25: 385–394
   PubMedGoogle Scholar
• Aaronson I. Anterior sacral meningocele, anal canal duplication cyst and covered anus occurring in one family. J Pediatr Surg 1970; 5: 559–563
   PubMedGoogle Scholar
• Ashcraft K W, Holder T M, Harris D J. Familial presacral teratomas. Birth defects: Orig. Art. Ser. XI, No. 10, National Foundation March of Dimes, New York 1975
   Google Scholar
• Bloom C J, Stone R E, Henriques A. Three unusual cases of congenital origin. Arch Pediatr 1917; 34: 512–515
   Google Scholar
• Cohn J, Bay-Nielsen E. Hereditary defect of the sacrum and coccyx with anterior sacral meningocele. Acta Pediatr Scand 1969; 58: 268–274
   PubMedGoogle Scholar
• Fellous M, Boue J, Malbrunot C, Wollman E, Sasportes M, Can Cong N, Marcelli A, Rebourcet R, Hubert Ch, Demenais F, Elston R C, Namboordiri K K, Kaplan E B, Fellous M. A five-generation family with sacral agenesis and spina bifida: Possible similarities with the mouse T-locus. Ann J Med Genet 1982; 12: 465–487
   Google Scholar
• Finer N N, Bowen P, Dunbar L G. Caudal regression anomalad (sacral agenesis) in siblings. Clin Genet 1978; 13: 353–358
   Google Scholar
• Frye F L, McFarland L Z, Enright J B. Sacrococcygeal agenesis in Swiss mice. Cornell Vet 1964; 54: 487–495
   Google Scholar
• Kenefick J S. Hereditary sacral agenesis associated with presacral tumors. Brit J Surg 1973; 60: 271–274
   Google Scholar
• Klenerman I, Merrick M V. Anterior sacral meningocele occurring in a family. J Bone Joint Surg 1973; 55b: 331–334
   Google Scholar
• Lebouchard R, Denis J P, Burner P, Grassin R. Les agénésies sacro-coccygiennes. J Radiol Electrol, Paris 1963; 44: 473–477
   Google Scholar
• Paris J, Laine E. Agénésie sacro-coccygienne héréditaire avec perforation anale incomplète. Megarectum dans l'enfance, meningocèle pelvienne a l'aˇge adulte. Sem Hôp (Paris) 1973; 49: 1320–1322
   Google Scholar
• Pouzet F. Les anomalies du dévéloppment du sacrum. Lyon Chir 1938; 35: 371–373
   Google Scholar
• Robert J M, Pernod J, Bonnet R. L'agénésie sacro-coccygienne familiale. J Génét Hum 1974; 23: 45–60
   Google Scholar
• Rochet E, Gacon G, Robert J M, Grunthaler Ch. Dystocie osseuse par agénésie sacrococcygienne. Observation familiale avec polyléthalité d'origine malformative associée. Gynecol Obstet (Paris) 1966; 65: 115–124
   Google Scholar
• Say B, Coldwell J G. Hereditary defect of the sacrum. Humangenetik 1975; 27: 231–234
   Google Scholar
• Stanley J K, Owen R, Koff S. Congenital sacral anomalies. J Bone Joint Surg 1979; 61B: 401–409
   Google Scholar
• Stewart J M, Stoll S. Familial caudal regression anomalad and maternal diabetes. J Med Genet 1979; 16: 17–20
   Google Scholar
• Assemany S R, Muzzo S, Gardner L I. Syndrome of phocomelic diabetic embryopathy (caudal dysplasia). Am J Dis Child 1972; 123: 489–491
   Google Scholar
• Fields G A, Schwarz R I I, Dickens H O, Tunnessen W. Sacral agenesis in the infant of a gestational diabetic. Obstet Gynecol 1968; 32: 778–781
   Google Scholar
• Lenz W, Maier W. Congenital malformations and maternal diabetes. Lancet 1964; 2: 1124–1125
   PubMed Web of Science ®Google Scholar
• Rusnak S L, Driscoll S G. Congenital spinal anomalies in infants of diabetic mothers. Pediatrics 1965; 35: 989–995
   PubMedGoogle Scholar
• Williamson D A J. A syndrome of congenital malformations possibly due to maternal diabetes. Dev Med Child Neurol 1970; 12: 145–159
   Google Scholar
• Smith E D. Congenital sacral anomalies in children. Aust NZ J Surg 1959; 29: 165–176
   PubMedGoogle Scholar
• Kučera J, Lenz W, Maier W. Missbildungen der Beine und dcr kaudalen Wirbelsäule bei Kindern diabetischer Mütter. Dtsch Med Wochenschr 1965; 90: 902–905
   Google Scholar
• Beals R K. Nosologic and genetic aspects of scoliosis. Clin Orthop 1973; 93: 23–32
   Google Scholar
• Quan L, Smith D W. The VATER association, vertebral defects, anal atresia, T-E fistula with esophagel atresia, radial and renal dysplasia: A spectrum of associated defects. J Pediatr 1973; 82: 104–107
   PubMed Web of Science ®Google Scholar
• Russell L J, Weaver D D, Bull M J. The axial mesodermal dysplasia spectrum. Pediatrics 1981; 67: 176–182
   PubMedGoogle Scholar
• Evans J, Hunter A. (letter) J Med Genet 1980; 17: 57–58
   Google Scholar
• Molinero F M, Castroviejo I F. Síndrome de regresión caudal. A propósito de cuatro casos. An Esp Pediatr 1976; 9: 111–117
   Google Scholar
• Bruycre H J, Jr, Viseskul C, Opitz J M, Langer L O, Ishikawa S, Gilbert E F. A fetus with upper limbs amclia, “caudal regression” and Dandy-Walker defect with an insulin-dependent mother. Eur J Pediatr 1980; 134: 139–143
   Google Scholar
• Pedersen J. The Pregnant Diabetic and her Newborn. Munksgaard, Copenhagen 1967; 105–107
   Google Scholar
• Schönenberg H. Das Syndrom der kaudalen Hypoplasie. Helv Paediatr Acta 1973; 1: 88–97
   Google Scholar
• Stern L, Ramos A, Light I. Congenital malformations and diabetes. Lancet 1965; 1: 1393–1394
   Google Scholar
• Thalhammer O, Lachmann D, Schcibenreiter S. “Caudale Regression” beim Kind ciner 18-jährigen Frau mit Prädiabetes. Z Kinderheilk 1968; 102: 346–355
   Google Scholar
• Kalitzki M. Congenital malformations and diabetes. Lancet 1965; 2: 641–642
   Google Scholar
• Banta J V, Nichols O. Sacral agenesis. J Bone Joint Surg 1969; 51A: 693–703
   Google Scholar
• Andrish J, Kalamchi A, MacEwen C D. Sacral agenesis: A clinical evaluation of its management, heredity, and associated anomalies. Clin Orthop 1979; 139: 52–57
   Google Scholar
• Wilson J S P, Vallance-Owen J. Congenital deformities and insulin antagonism. Lancet 1966; 2: 940–942
   Google Scholar
• Landauer W. “Rumplessness” of chicken embryos produced by the injection of insulin and other chemicals. J Exp Zool 1945; 98: 65–77
   Google Scholar
• Landauer W, Clarke E M. Teratogenic interaction of insulin and 2-deoxy-D-glucose in chick development. J Exp Zool 1962; 151: 245–252
   PubMedGoogle Scholar
• Danforth C H. Artificial and hereditary suppression of sacral vertehrae in the fowl. Proc Soc Exp Biol 1932; 30: 143–145
   Google Scholar
• Landauer W, Baumann L. “Rumplessness” of chicken embryos produced by mechanical shaking of eggs prior to incubation. J Exp Zool 1943; 93: 51–74
   Google Scholar
• Deuchar E M. Experimental evidence relating fetal anomalies to diabetes in carbohydrate metabolism. Pregnancy and the Newborn 1978, H W Sutherland, J M Stowers. Springer-Verlag, New York 1979
   Google Scholar
• Adesamya T, Gill I, Shina K. Insulin content and enzyme histochemistry of human fetal pancreatic islet. J Endocrinol 1966; 36: 151
   Google Scholar
• Chung C S, Myriamhopoulos N G. Factors affecting risks of congenital malformations. Birth Defects: Orig Art Ser II, No 10, National Foundation March of Dimes, New York 1975
   Google Scholar
• Comess L J, Bennett P H, Burch T A, Miller M. Congenital anomalies and diabetes in the Pima Indians of Arizona. Diabetes 1969; 18: 471–477
   PubMed Web of Science ®Google Scholar
• Driscoll S G, Benirschke K, Curtis G W. Neonatal deaths among infants of diabetic mothers. Am J Dis Child 1960; 100: 818–835
   PubMedGoogle Scholar
• Farquhar J W. Prognosis for babies born to diabetic mothers in Edinburgh. Arch Dis Child 1969; 44: 36–47
   PubMed Web of Science ®Google Scholar
• Hagbard L. Pregnancy and diabetes mellitus. Acta Obstet Gynecol Scand 1956; 35(Suppl. 1)1–80
   Google Scholar
• Kučera J. Rate and type of congenital anomalies among offspring of diabetic women. J Reprod Med 1971; 7: 61–70
   Web of Science ®Google Scholar
• Miller H C. The effect of diabetic and pre-diabetic pregnancies on the fetus and newborn infant. J Pediatr 1946; 29: 455–461
   Google Scholar
• Navarrete V N, Rojas C E, Alger C R, Paniagua H E. Frequent diabetes in mothers delivered of a malformed infant. Lancet 1970; 2: 993–995
   Google Scholar
• Pedersen J, Mølsted-Pedersen L, Andersen B. Assessors of fetal perinatal mortality in diabetic pregnancy. Diabetes 1974; 23: 302–305
   Google Scholar
• Kučera J. Exposure to fat solvents: A possible cause of sacral agenesis in man. J Pediatr 1968; 72: 847–859
   Google Scholar
• Benshaw T S. Sacral agenesis. J Bone Joint Surg 1978; 60A: 373–383
   Google Scholar
• Bennett D. The T-locus of the mouse. Cell 1975; 6: 441–454
   Web of Science ®Google Scholar
• Thierry A, Archimbaud J P, Fischer G, Freidel M, Mansuy L. La méningocèle sacrée antérieure. Revue dc la littérature et présentation d'un cas. Neuro-chirurgie 1969; 15: 389–412
   Google Scholar
• Smith E D. Congenital sacral defects. Congenital malformations of the rectum, anus, and genito-urinary tracts, F D Stephens. R Webster, Edinburgh, Livingstone 1963; 82–96
   Google Scholar
• Yates V D, Wilroy R S, Whitington G L, Simmons J C H. Anterior sacral defects: An autosomal dominantly inherited condition. J Pediatr 1983; 102: 239–242
   Google Scholar
• Rotter J I, Rimoin D L. Heterogeneity in diabetes mcllitus-update, 1978. Diabetes 1978; 27: 599–604
   PubMed Web of Science ®Google Scholar
• Barr M, Hanson J W, Currey K, Sharp S, Toriello H, Schmickey R D, Wilson G M. Holoprosencephaly in infants of diabetic mothers. J Pediatr 1983; 102: 565–568
   Google Scholar