Dyschondrosteosis Léri Weill

Classification according to ICD-10
Q77.8	Other osteochondrodysplasias with growth disorders of the long bones and the spine
ICD-10 online (WHO version 2019)

The dyschondrosteosis Léri Weill is the skeletal related congenital disease with the characteristics of a dysproportionierten short stature with symmetrical shortening of the center segments of the limbs and a Madelung's deformity (partial dislocation of the wrist).

designation

Synonyms for this skeletal dysplasia are Léri-Weill syndrome , Lamy-Bienenfeld syndrome and the English term Léri-Weill mesomelic dwarfism .

The names refer to the authors of the first description from 1929 by the French neurologist André Léri (1875–1930) and the Parisian pediatrician and endocrinologist Jean A. Weill (* 1903) as well as the first authors Maurice Emile Joseph Lamy (1895–1975 ) and C. Bienenfeld .

"Dyschondrosteose" means "disturbance of the cartilage and boil development".

distribution

The frequency is unknown; the inheritance is autosomal dominant . Since the affected SHOX gene is on the gonosomes , it is called pseudoautosomal inheritance. The female sex is more often affected; the changes can be differently pronounced.

root cause

The disease are mutations in SHOX - gene on the gene region Xp22.33 or shoxy gene in the gene region Yp11.32 basis.

These gene regions are known as pseudoautosomal region 1 (PAR1). Associated diseases include Langer type mesomelic dysplasia as a more severe form and the isolated Madelung deformity as a milder form . The prevalence of SHOX / PAR1 mutations is estimated at 1: 1,000.

features

Madelung deformity

Clinical criteria are:

From birth, disproportionate, symmetrical short stature with shortening of the forearms and lower legs

Developing diaphyseal curvature of the radius with a distal median missing epiphysis and resulting Madelung bayonet position of the hands

Occasionally, proximal bending of the tibia occurs.

Boys have an athletic body shape due to (relative) muscle hypertrophy .

Léri Weill's dyschondrosteosis can be very different in severity, both in terms of skeletal abnormalities and body size, which can vary from "very short" to "in the lower normal range".

diagnosis

The diagnosis is based on the clinical findings and corresponding x-rays . A confirmation is given by genetic analysis .

Differential diagnosis

In addition to the diseases caused by the same gene region, Turner syndrome must be distinguished.

Treatment options

Treatment with growth hormones can improve the growth of affected children.

literature

I. Llano-Rivas, J. Fernández-Toral, I. Navarro-Vera: Discondrosteosis de Leri-Weill. Mutación en gen SHOX y expressed variable. In: Anales de pediatría (Barcelona, Spain: 2003). Vol. 74, No. 6, June 2011, pp. 405-408, doi : 10.1016 / j.anpedi.2011.01.005 , PMID 21397576 .
HL Koch: Dyschondrosteosis Léri-Weill. In: RöFo: Advances in the field of X-rays and nuclear medicine. Vol. 138, No. 5, May 1983, pp. 603-606, doi : 10.1055 / s-2008-1055794 , PMID 6406322 .
JW Spranger: Bone Dysplasias, Urban & Fischer 2002, ISBN 3-437-21430-6 .

Individual evidence

↑ ^a ^b ^c ^d ^e ^f Dyschondrosteosis Léri Weill. In: Orphanet (Rare Disease Database).
↑ ^a ^b 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 .
↑ A. Léri, JA Weill: Une affection congénitale et symétrique du développement osseux. La dyschondrostéose. In: Bulletins et memoires de la Société medicale des hôpitaux de Paris , 1929, vol. 53, pp. 1491-1494.
↑ M. Lamy, C. Bienenfeld: La Dyschondreosteose. In: L. Gedda (Ed.): Analecta Genetica , Roma, Istitutio Gregorio Mendel, Vol. 1, 1954, pp. 153-164.
↑ Who named it
↑ Leri-Weill dyschondrosteosis. In: Online Mendelian Inheritance in Man . (English)
↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X , p. 661
↑ Gudrun Rappold: Léri-Weill-Dyschondrosteosis . In: BKMF (Hrsg.): Small stature - yellow leaves . tape 7 , March 2007, p. 1 .
↑ Gudrun Rappold: Léri-Weill-Dyschondrosteosis . In: BKMF (Hrsg.): Small stature - yellow leaves . tape 7 , March 2007, p. 3 .

[Orpha-1] ↑ ^a ^b ^c ^d ^e ^f Dyschondrosteosis Léri Weill. In: Orphanet (Rare Disease Database).

[Leiber-2] 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 .

[3] A. Léri, JA Weill: Une affection congénitale et symétrique du développement osseux. La dyschondrostéose. In: Bulletins et memoires de la Société medicale des hôpitaux de Paris , 1929, vol. 53, pp. 1491-1494.

[4] M. Lamy, C. Bienenfeld: La Dyschondreosteose. In: L. Gedda (Ed.): Analecta Genetica , Roma, Istitutio Gregorio Mendel, Vol. 1, 1954, pp. 153-164.

[5] Who named it

[6] Leri-Weill dyschondrosteosis. In: Online Mendelian Inheritance in Man . (English)

[7] F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X , p. 661

[8] Gudrun Rappold: Léri-Weill-Dyschondrosteosis . In: BKMF (Hrsg.): Small stature - yellow leaves . tape 7 , March 2007, p. 1 .

[9] Gudrun Rappold: Léri-Weill-Dyschondrosteosis . In: BKMF (Hrsg.): Small stature - yellow leaves . tape 7 , March 2007, p. 3 .