Dyssegmental dysplasia

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The Dyssegmentale dysplasia among the lethal forms of skeletal dysplasia characterized by a disordered ( "anarchistic") form of the ossification of vertebral bodies as well as Kamptomelie and micromelia .

Synonyms are Dyssegmental Dwarfism ; Anisospondyler Camptomicromeler Dwarfism

distribution

The frequency is not known, the inheritance is done autosomal - recessive . Patients of Spanish descent are disproportionately affected. So far about 20 patients have been published.

Classification

There are two forms of different clinical severity:

  • Type Silverman handmaker (heavier)
  • Rolland-Desbuquios type (lighter)

The designations refer to the names of the respective descriptors in 1969 by the US pediatrician Frederic Noah Silverman (1914-2006) in 1977 by the US pediatrician Standley Handmaker and in 1972 by the French pediatrician JC Rolland. and employees.

Clinical manifestations

It is a lethal disturbance of the skeletal development with anarchic ossification of the vertebral bodies, already intrauterine short stature, hydrops fetalis , a relatively large head with a flat nose and a small chin. Death occurs at or shortly after birth.

Investigation methods

The x-ray shows a disordered, abnormal ossification of the vertebral bodies (up to and including the absence of entire vertebral bodies) with pronounced segmentation disorder, coronary vertebral body fissures , a narrow thorax, and greatly shortened curved tubular bones .

diagnosis

Both forms can already be detected prenatally in fine ultrasound .

Differential diagnosis

Must be distinguished is the Kniest dysplasia .

history

As early as 1900, the German radiologist M. Simmonds published X-ray images of dyssegmental dysplasia.

literature

  • H. Stöss: [Dyssegmental dysplasia. Clinical case report and review of literature]. In: The Pathologist. Volume 6, No. 2, March 1985, pp. 88-95, ISSN  0172-8113 . PMID 4039059 .
  • S. Fasanelli, K. Kozlowski, S. Reiter, D. Sillence: Dyssegmental dysplasia (report of two cases with a review of the literature). In: Skeletal radiology. Volume 14, No. 3, 1985, pp. 173-177, ISSN  0364-2348 . PMID 4059934 .

Individual evidence

  1. ↑ a b c d e f 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. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer, 1998, ISBN 3-540-61480-X .
  3. ↑ Who named it
  4. ↑ Dyssegmental dysplasia. In: Orphanet (Rare Disease Database). Dyssegmental dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Dyssegmental dysplasia. In: Orphanet (Rare Disease Database). Dyssegmental dysplasia.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ whonamedit.com
  7. ^ FN Silverman: Forms of dysostotic dwarfism of uncertain classification. In: Annales de radiologie. Paris, 1969, Vol. 12, pp. 1005-1006.
  8. ↑ whonamedit.com
  9. ^ SR Handmaker, LD Robinson, JA Campbell, O. Chinwah, RJ Gorlin: Dyssegmental dwarfism; a new syndrome of lethal dwarfism. In: Birth Defects Original Article Series. New York, XIII, 1977, 3D, pp. 79-90. PMID 922143 .
  10. ↑ JC Rolland, J. Laugier, B. Grenier, G. Desbuquois: Nanisme chondrodystropphique et division palatine chez un nouveau-né. In: Annales de pédiatrie. Paris, 1972, Volume 19, pp. 139-143.
  11. ↑ K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme, 1995, ISBN 3-13-128101-4 .
  12. ↑ NN Ladhani, D. Chitayat, MM Nezarati, MC Laureane, S. Keating, RJ Silver, S. Unger, L. Velsher, W. Sirkin, A. Toi, P. Glanc: Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis. In: Prenatal diagnosis. Volume 33, No. 11, November 2013, pp. 1039-1043, ISSN  1097-0223 . doi: 10.1002 / pd.4193 . PMID 23836246 .
  13. ↑ JR Wax, J. Albanese, R. Smith, MG Pinette, R. Chard, A. Cartin: Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type. In: Journal of clinical ultrasound: JCU. Volume 39, No. 8, October 2011, pp. 480-483, ISSN  1097-0096 . doi: 10.1002 / jcu.20868 . PMID 21882205 .
  14. ^ M. Simmonds: Investigations of malformations with the help of the X-ray method. In: Fortschr Röntgenstr. Volume 4, 1900-1901, pp. 197-211.