Larsen Syndrome
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.
clinic
Diagnostic characteristics are:
- Multiple joint dislocations at birth: hips, knees, elbows
- Craniofacial anomaly with sunken nose, hypertelorism , flat face
- Cleft palate , in 50% clubfoot
- Radiologically broad terminal phalanges , scoliosis of the upper cervical spine, possibly with segmentation disorder, accessory bone core on the calcaneus , excess carpal bones .
- Breathing disorders.
Cardiovascular disorders have also been described.
Differential diagnosis
Clinically to be bordered is:
- Ehlers-Danlos Syndrome
- Arthrogryposis multiplex congenita
- Congenital knee dislocation
- Desbuquois Syndrome
Differential diagnostics are to be differentiated according to the x-ray findings:
- Oto-palato-digital syndrome I
- Frontometaphyseal Dysplasia
- Spondylo-epi-metaophyseal dysplasia with joint laxity and kyphoscoliosis
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
- ↑ 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.
- ↑ 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 .
- ↑ 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).
- ↑ a b Larsen syndrome, autosomal dominates. In: Orphanet (Rare Disease Database).
- ↑ Larsen syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ CHST3-associated skeletal dysplasia. In: Orphanet (Rare Disease Database).
- ^ Spondyloepiphyseal dysplasia with congenital joint dislocations. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b F. Hefti: Pediatric orthopedics in practice . Springer 1998, ISBN 3-540-61480-X , p. 662.
- ^ 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 .
- ↑ JW Spranger: Bone Dysplasias. Urban & Fischer 2002, ISBN 3-437-21430-6 , p. 241.
- ↑ 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 .