Osebold-Remondini syndrome

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Classification according to ICD-10
Q73.8 Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

The Osebold-Remondini syndrome is a very rare congenital skeletal dysplasia with mesomelem short stature and a combination of brachymesophalangia and abnormalities of the carpal - and tarsal bones and is known as Type A6 to brachydactyly counted.

The name refers to the first authors of the first description from 1985 by the US doctors William R. Osebold, David J. Remondini and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far a family of 7 people has been reported. The inheritance is autosomal dominant .

Clinical manifestations

Clinical criteria are:

  • Forearms and lower legs shortened at birth
  • Short stature, adult height around 160 cm
  • Shortening of the radius and ulna , radial deviation of the hands, synostoses of the carpal bones, brachydactyly with hypo- / aplastic middle phalanges
  • also on the lower leg and foot, split ankle bone ( talus cleft )
  • normal mental development

Differential diagnosis

The Nievergelt syndrome must be distinguished .

literature

  • LJ Sheffield, VM Mayne, DM Danks: Osebold-Remondini syndrome vs chondrodysplasia punctata. In: American journal of medical genetics. Vol. 28, No. 2, October 1987, pp. 507, 509, doi: 10.1002 / ajmg.1320280230 , PMID 3425625 .
  • JM Opitz, EF Gilbert: Autopsy findings in a stillborn female infant with the Osebold-Remondini syndrome. In: American journal of medical genetics. Vol. 22, No. 4, December 1985, pp. 811-819, doi: 10.1002 / ajmg.1320220415 , PMID 4073129 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Brachydactyly A6. In: Orphanet (Rare Disease Database).
  3. ↑ WR Osebold, DJ Remondini, EL Lester, JW Spranger, JM Opitz: An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. In: American journal of medical genetics. Vol. 22, No. 4, December 1985, pp. 791-809, doi: 10.1002 / ajmg.1320220414 , PMID 4073128 .

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