Two Japanese cases with microcephalic primordial dwarfism: Classical seckel syndrome and osteodysplastic primordial dwarfism type II

Summary

A male infant with “classical” Seckel syndrome and a girl with osteodysplastic primordial dwarfism type II are described. The boy with classical Seckel syndrome had severe brain dysplasia, a finding hitherto unreported in patients with this syndrome. The patient with osteodysplastic dwarfism type II had skeletal abnormalities including lumbar scoliosis, a small and high pelvis, metaphyseal flaring of the distal radii and ulnae, V-shaped metaphyseal flaring of the distal femorae, and short metacarpals and phalanges. The mother of this girl was short, microcephalic, and had disproportionately short forearms and legs. In view of this, dominant inheritance of the disease was suggested.

References

  1. Bangstad H-J, Beck-Nielsen H, Hother-Nielsen O, Nystad R, Trygstad O, Pedersen O, Aagenaes O (1989): Primordial bird headed nanism associated with progressive ataxia early onset insulin resistant diabetes, goiter, and primary gonadal insufficiency. Acta Paediatr Scand78: 488–493

  2. Butler MG, Hall BD, Maclean RN, Lozzio CB (1987): Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am J Med Genet27: 645–649

  3. Fitch N, Pinsky L, Lachance RC (1970): A form of bird-headed dwarfism with features of premature senility. Am J Dis Child120:260–264

  4. Fukuda S, Morishita Y, Hashiguchi M, Taira A (1991): Seckel syndrome associated with atrial septal defect; a case report and review of the literature in Japan. Kyobugeka44:411–413 (in Japanese)

  5. Meinecke P, Passarge E (1991): Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet28:795–800

  6. Majewski F, Spranger J (1976): Über einen neuen Typ des primordialen Minderwuchses: Der brachymele primordiale Minderwuchs. Mschr Kinderheilk124:499–503

  7. Majewski F, Goecke T (1982): Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am J Med Genet12:7–21

  8. Majewski F, Ranke M, Schinzel A (1982a): Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am J Med Genet12:23–35

  9. Majewski F, Stoeckenius M, Kemperdick H (1982b): Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism type III. Am J Med Genet12:37–42

  10. Seckel HPG (1960): Bird-headed dwarfs. Charles C. Thomas, Springfield, pp 1–241

  11. Verloes A, Lambrechts L, Senterre J, Lambotte C (1987): Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clin Genet32:88–94

  12. Willems PJ, Rouwé C, Smith GPA (1987): A new case of the osteodysplastic primordial dwarfism type II. Am J Med Genet26:819–824

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Correspondence to Yoshitsugu Sugio M.D..

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Sugio, Y., Tsukahara, M. & Kajii, T. Two Japanese cases with microcephalic primordial dwarfism: Classical seckel syndrome and osteodysplastic primordial dwarfism type II. Jap J Human Genet 38, 209–217 (1993). https://doi.org/10.1007/BF01883712

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Key Words

  • Seckel syndrome
  • osteodysplastic primordial dwarfism type II

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