Asphyxating thoracic dysplasia

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Classification according to ICD-10
Q77.2 Short rib polydactyly syndromes Including: Asphyxating thoracic dysplasia [Jeune]
ICD-10 online (WHO version 2019)

The Asphyxiating thoracic (or -dystrophie) ( . Latin thoraco-pelviko-phalangeal dystrophy ), even after the first described in 1954, the French pediatrician Mathis Jeune Jeune syndrome called ( Engl. Asphyxiating thoraxic dystrophy ; thoracic-pelvic-phalangeal dystrophy ) is an often fatal skeletal dysplasia from the group of short rib polydactyly syndromes with very short ribs and a correspondingly narrow thorax . It is one of the ciliopathies .

The disease is inherited as an autosomal recessive trait, so far the following genes have been found: IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3).

The incidence is estimated at 1–5 in 500,000.

Chest-abdomen x-ray of an eleven-month-old newborn with asphyxiating thoracic dysplasia Jeune

clinic

The disease can already be recorded intrauterine , otherwise it is noticeable immediately after birth.

The degree of severity of the changes can vary considerably.

Criteria are: Chest deformity with a long, narrow thorax with shortness of breath in the newborn due to lack of space for the lungs; Short extremities with short stature, possibly polydactyly ; Renal insufficiency , retinopathy, and fibrosis of the liver and pancreas can occur in later childhood .

diagnosis

The clinical suspected diagnosis is confirmed in the X-ray . Diagnostic criteria are:

  • Short, horizontal ribs
  • Narrow pelvic shovels with trident-like delimitation of the lower edge, acetabular roof running horizontally and spur-like pointing caudally
  • Premature ossification of the femoral epiphysis
  • Long bones shortened distally
  • Cone epiphyses of the middle phalanges.

to form

According to the type of ossification of the cartilage systems, two forms can be distinguished:

  • Type I Spotty enchondral ossification, irregular metaphyses, islands of cartilage in the metaphyses
  • Type II regular ossification

Differential diagnosis

Are to be delimited

therapy

The treatment and its success depend on the extent of the lung impairment; any upper respiratory tract infections must be treated, and kidney and liver function and the fundus of the eye must be checked regularly.

If the children survive, the lung function gradually recovers and the risk of respiratory infections then decreases.

A newer treatment option has arisen with the vertical expandable prosthetic titanium ribs ( VEPTR ) according to Campbell, in which the rib thorax can be surgically stretched.

literature

  • M. JEUNE, C. BERAUD, R. CARRON: Dysthrophie thoracique asphyxiante de caractère familial. In: Archives françaises de pédiatrie. Volume 12, Number 8, 1955, pp. 886-891, ISSN  0003-9764 . PMID 13292988 .
  • J. de Vries, JL Yntema, CE van Die, N. Crama, EA Cornelissen, BC Hamel: Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. In: European Journal of Pediatrics. Volume 169, Number 1, January 2010, pp. 77-88, ISSN  1432-1076 . doi : 10.1007 / s00431-009-0991-3 . PMID 19430947 . PMC 2776156 (free full text).

Individual evidence

  1. ↑ M. Jeune, R. Carron, C. BERAUD, Y. LOAEC: Polychondrodystrophie avec blocage thoracique d'évolution fatal. In: Pediatrie. Volume 9, Number 4, 1954, pp. 390-392, ISSN  0031-4021 . PMID 13185703 .
  2. ↑ a b c d Orphanet
  3. ↑ DW Bianchi, TM Crombleholme, ME D'Alton: Fetology: diagnosis & management of the fetal patient. 2000 In: McGraw-Hill Professional, ISBN 978-0-8385-2570-8 , p. 673–
  4. ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9 .
  5. ↑ JW Spranger: Bone Dysplasias , Urban & Fischer 2002, ISBN 3-437-21430-6 .
  6. ↑ F. Hefti: Pediatric Orthopedics in Practice . Springer Berlin et al. 1997, ISBN 978-3-540-61480-7
  7. ↑ L. Langer: Thoracic-pelvic phalangeal dystrophy 1968 in: Radiology 91, p. 447.
  8. ^ AK Hell, RM Campbell, F. Hefti: New therapy concept for children with thoracic insufficiency syndrome due to spinal malformations In: Klinische Pädiatrie. Volume 217, Number 5, 2005 Sep-Oct, pp. 268-273, ISSN  0300-8630 . doi : 10.1055 / s-2004-832483 . PMID 16167273 .
  9. ↑ M. Lacher, HG Dietz: VEPTR (Vertical Expandible Prosthetic Titanium Rib) treatment for Jeune syndrome. In: European journal of pediatric surgery: official journal of the Austrian Association of Pediatric Surgery ... [et al] = Journal for Pediatric Surgery. Volume 21, Number 2, March 2011, pp. 138-139, ISSN  1439-359X . doi : 10.1055 / s-0030-1267222 . PMID 21053163 .

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