Skip to main content
SpringerLink
Log in

Case report

Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course

  • Medical Genetics
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Abstract

We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After fronto-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably.

Conclusion

MOPD type II may have a wider range of expression than previously delineated.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Abbreviations

MOPD :

microcephalic osteodysplastic primordial dwarfism

OFC :

occipito-frontal circumference

References

  1. Bass HN, Smith LE, Sparkes RS, Gyepes MT (1975) Case report 33. Syndrome Ident J III:12–14

    Google Scholar 

  2. Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R (1989) Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and II. Am J Med Genet 33:224–227

    PubMed  Google Scholar 

  3. Herman TE, Mendelsohn NJ, Dowton SB, McAlister WH (1991) Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features. Pediatr Radiol 21:602–604

    PubMed  Google Scholar 

  4. Kozlowski K, Donovan T, Masel J, Wright RG (1993) Microcephalic, osteodysplastic, primordial dwarfism. Australas Radiol 37:111–114

    PubMed  Google Scholar 

  5. Majewski F, Goecke T (1982) Studies of microcephalic primordial dwarfism J: Approach to a delineation of the Seckel syndrome. Am J Med Genet 12:7–21

    PubMed  Google Scholar 

  6. Majewski F, Spranger J (1976) Über einen neuen Typ des primordialen Minderwuchses: Der brachymele primordiale Minderwuchs. Monatsschr Kinderheilk 124:499–503

    Google Scholar 

  7. Majewski F, Ranke M, Schinzel A (1982) Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23–35

    PubMed  Google Scholar 

  8. Majewski F, Stoeckenius M, Kemperdick H (1982) Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism III. Am J Med Genet 12:37–42

    PubMed  Google Scholar 

  9. Shebib S, Hugossin C, Sakati N, Nyhan WL (1991) Osteodysplastic variant of primordial dwarfism. Am J Med Genet 40:146–150

    PubMed  Google Scholar 

  10. Sugio Y, Tsukahara M, Kajii T (1993) Two Japanese cases with microcephalic primordial dwarfism: classical Seckel syndrome and osteodysplastic primordial dwarfism type II. Jpn J Hum Genet 38:209–217

    PubMed  Google Scholar 

  11. Thompson E, Pembrey M (1985) Seckel syndrome: an overdiagnosed syndrome. J Med Genet 22:192–201

    PubMed  Google Scholar 

  12. Verloes A, Lambrechts L, Senterre J, Lambotte C (1987) Microcephalic osteodysplastic dwarfism (Type II-like) in siblings. Clin Genet 32:88–94

    Google Scholar 

  13. Willems PJ, Rouwe C, Smit GPA (1987) A new case of the osteodysplastic primordial dwarfism type II. Am J Med Genet 26:819–824

    PubMed  Google Scholar 

  14. Winter RM, Wigglesworth J, Harding BN (1985) Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am J Med Genet 21:569–574

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Institute of Human Genetics and Anthropology, Im Neuenheimer Feld 328, D-69120, Heidelberg, Germany

    S. Spranger & G. Tariverdian

  2. Department of Neurosurgery, University of Heidelberg, Heidelberg, Germany

    F. K. Albert

  3. Children's Hospital, University of Heidelberg, Heidelberg, Germany

    D. Sontheimer

  4. Department of Maxillo-facial Surgery, Unversity of Heidelberg, Heidelberg, Germany

    J. Zöller

  5. Department of Orthopedics, University of Heidelberg, Heidelberg, Germany

    M. Weber

  6. Department of Paediatric Radiology, University of Heidelberg, Heidelberg, Germany

    J. Tröger

Authors
  1. S. Spranger
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Tariverdian
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. F. K. Albert
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. D. Sontheimer
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. Zöller
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. M. Weber
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. J. Tröger
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Spranger, S., Tariverdian, G., Albert, F.K. et al. Case report. Eur J Pediatr 155, 796–799 (1996). https://doi.org/10.1007/BF02002910

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02002910

Key words

Search

Navigation