Larsen Syndrome

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Classification according to ICD-10
Q68.8 Other specified congenital musculoskeletal deformities
Q65.2 Congenital dislocation of the hip joint, unspecified
Q68.2 Congenital deformity of the knee
ICD-10 online (WHO version 2019)

The Larsen syndrome , also Rotter Erb's syndrome is a hereditary connective tissue disease with multiple dislocations and skeletal dysplasia .

The disease was first described by Rotter and Erb in 1948; the disease is named after the American orthopedic surgeon Loren Joseph Larsen (* 1914), who published a description in 1950.

distribution

The frequency is given as 1–9 in 1,000,000, on the island of Réunion the prevalence at birth is 1 in 1,500.

Classification and cause

Depending on the inheritance, a distinction can be made:

  • autosomal dominant form, by far the most common. This disease is based on mutations in the FLNB gene at locus 3p14.3, which codes for filamin B.
  • autosomal recessive form, (synonyms: CHST3-associated skeletal dysplasia; English SPONDYLOEPIPHYSEAL DYSPLASIA, OMANI TYPE ), mutations in the CHST3 gene at 10q22.1.
Hand of a patient with Larsen syndrome.
Foot of a patient with shortening and joint malposition

clinic

Diagnostic characteristics are:

Cardiovascular disorders have also been described.

Differential diagnosis

Clinically to be bordered is:

Differential diagnostics are to be differentiated according to the x-ray findings:

Diagnosis

Already prenatally suspected diagnosis is adjustable.

After the birth, in addition to documenting the extent of the dislocations using ultrasound, an X-ray is required to delimit the differential diagnoses listed .

treatment

A causal therapy is not possible. The treatment is symptom-related and depends on the extent of the deformities. Problems with anesthesia can arise due to the instability of the cervical spine.

See also

Individual evidence

  1. ↑ N. Mitra, N. Kannan, VS Kumar, G. Kavita: Larsen Syndrome: A Case Report. In: Journal Of Nepal Pediatric Society. 32.1 (2012), pp. 85-87.
  2. ↑ a b G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.); B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 .
  3. ↑ M. Vujic, K. Hallstensson, J. Wahlström, A. Lundberg, C. Langmaack, T. Martinson: Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from , the COL7A1 locus. In: American Journal of Human Genetics . Volume 57, Number 5, November 1995, pp. 1104-1113, ISSN  0002-9297 . PMID 7485161 . PMC 1801374 (free full text).
  4. ↑ a b Larsen syndrome, autosomal dominates. In: Orphanet (Rare Disease Database).
  5. ↑ Larsen syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ CHST3-associated skeletal dysplasia. In: Orphanet (Rare Disease Database).
  7. ^ Spondyloepiphyseal dysplasia with congenital joint dislocations.  In: Online Mendelian Inheritance in Man . (English)
  8. ↑ a b F. Hefti: Pediatric orthopedics in practice . Springer 1998, ISBN 3-540-61480-X , p. 662.
  9. ^ A b E. A. Kiel, JL Frias, BE Victorica: Cardiovascular manifestations in the Larsen syndrome. In: Pediatrics. Volume 71, Number 6, June 1983, pp. 942-946, ISSN  0031-4005 . PMID 6856406 .
  10. ↑ JW Spranger: Bone Dysplasias. Urban & Fischer 2002, ISBN 3-437-21430-6 , p. 241.
  11. ↑ T. Tongsong, C. Wanapirak, p Pongsatha, J. Sudasana: Prenatal sonographic diagnosis of Larsen syndrome. In: Journal of ultrasound in medicine: official journal of the American Institute of Ultrasound in Medicine. Volume 19, Number 6, June 2000, pp. 419-421, ISSN  0278-4297 . PMID 10841065 .

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