Hostname: page-component-78c5997874-mlc7c Total loading time: 0 Render date: 2024-11-08T04:49:06.308Z Has data issue: false hasContentIssue false
  • English
  • Français

Discordance for Skeletal and Cardiac Defect in Monozygotic Twins

Published online by Cambridge University Press:  01 August 2014

C. Stoll ,
M.P. Roth ,
B. Dott  and
P. Bigel
C. Stoll*
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France
M.P. Roth
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France
B. Dott
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France
P. Bigel
Affiliation:
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg, France
*
Institut de Puériculture, Centre Hospitalo-Universitaire, 67000 Strasbourg, France

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.

Keywords

CraniostenosisOculo-auriculo-vertebral dysplasiaTwins
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 33 , Issue 3 , July 1984 , pp. 501 - 504
Copyright
Copyright © The International Society for Twin Studies 1984

References

REFERENCES

1.Auchterlonie, IA, White, MP (1982); Recurrence of the Vater association within a sibship. Clin Genet 21: 122–424.Google Scholar
2.Carpenter, G (1901): The sisters showing malformations of the skull and other congenital abnormalities. Rep Soc Study Dis Child (London) 1:110–115.Google Scholar
3.Gorlin, RJ, Je, KL, Jacobsen, U, Goldshmidt, E (1963): Oculo-auriculo-vertebral dysplasia. J Pediatr 63:991–999.Google Scholar
4.Greig, DM (1924): Oxycephaly. Edinb Med J, 33:189–193.Google Scholar
5.Hay, S, Wehrung, DA (1970): Congenital malformations in twins. Am J Hum Genet 22:662–665.Google ScholarPubMed
6.Holt, M, Oram, S (1960): Familial heart disease with skeletal malformations. Brit Heart J, 22: 236–242.CrossRefGoogle ScholarPubMed
7.King, SL, Ladda, RL, Shochat, SJ (1977): Monozygotic twins concordant for tracheo-oesophageal fistula and discordant for the Vater association. Acta Pediat Scand 66:783–785.Google Scholar
8.Korting, GW, Ruther, H (1954): Ichthyosis und ako-faciale Dysostose. Arch Dermatol 197:91–93.CrossRefGoogle Scholar
9.Myrianthopoulos, NG (1976): Congenital malformations in twins. Acta Genet Med Gemellol (Roma) 24:331–335.Google Scholar
10.Pashayan, H, Pinsky, L, Fraser, PC (1970): Hemifacial microsomia: oculo-auriculo-vertebral dysplasia. A patient with overlapping features. J Med Genet 7:185–188.CrossRefGoogle ScholarPubMed
11.Poznanski, AK, Gall, JC, Stern, AM (1970): Skeletal manifestations of the Holt-Oram syndrome. Radiology 94:45–54.Google Scholar
12.Quan, L, Smith, DW (1973): The Vater association, Vertebral defects, Anal atresia, T-E fistula with esophageal atresia, Radial and Renal dysplasia: a spectrum of associated defects. J Pediat 82:104–107.CrossRefGoogle ScholarPubMed
13.Schinzel, AAGL, Smith, DW, Miller, JR (1979): Monzoygotic twinning and structural defects. J Pediat 95:921–930.CrossRefGoogle ScholarPubMed
14.Stoll, C, Roth, MP (1982): Etude des malformations congénitales dans une série de 19.526 naissance consécutives. Med Hyg 40:584–586.Google Scholar
15.Temtamy, SA, Miller, JD (1974): Extending the scope of the Vater association. Definition of a Vater syndrome. J Pediatr 85:345–349.Google Scholar
16.Temtamy, S, McKusick, V (1978): The genetics of hand malformations. BD: OAS. White Plains: The National Foundation 14:413–426.Google Scholar
17.Turner, H (1931): Endocrine clinic: Diabetes insipidus, Laurence-Biedl syndrome. J Okla State Med Assoc 24:148–151.Google Scholar