Brachyolmia
Classification according to ICD-10 | |
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Q76.3 | Congenital scoliosis caused by congenital bone malformation |
ICD-10 online (WHO version 2019) |
The Brachyolmia (from ancient Greek βραχύς brachys , short 'and ὄλμος Olmos , roller or hull) is a group of autosomal recessive or dominant hereditary diseases , skeletal dysplasias with exclusive involvement of the spine .
Common to all forms is the onset of abnormalities in childhood with short stature mainly affecting the trunk .
Synonyms are: brachyolmia, recessive type ; Brachyolmia type Hoback ; french dysplasia spondylarie pure; Dreyfus Syndrome (obsolete)
The name refers to the first author of the first description from 1961 by the Norwegian pediatrician A. Hobaek . The term "brachyolmia" was coined in 1975 by the pediatrician from Lille G. Fontaine and colleagues.
classification
The classification is mainly based on clinical criteria:
- Type IA ( Hobaek type ; BCYM1a; actual brachyolmia; spondylodysplasia with pure brachyolmia), autosomal recessive, manifestation in late childhood, short stature limited to the trunk
- Type IB ( type Toledo ; BCYM1b; spondyloepiphyseal dysplasia type Toledo; PAPS-chondroitin-sulfate-sulfotransferase deficiency), autosomal recessive, skeletal and vertebral changes probably identical to type Hobaek, additional increased excretion of glycosaminoglycans from and peripheral corneal opacity
- Type II ( Maroteaux type ; BCYM2), autosomal recessive, manifestation in childhood, irregular and narrowed intervertebral spaces , marked deformation of the vertebral bodies
- Type III ( autosomal dominant ; brachyrachia; BCYM3), autosomal dominant with mutations in the TRPV4 gene at location 12q24.11, symptoms less severe, mostly scoliosis or kyphosis
- Type IV ( Pakistani type ; spondylodysplasia with premature pubarche; BCYM4) with mild epi- and metaphyseal changes, with mutations in the PAPSS2 gene at location 10q23.2-q23.3
Clinical manifestations
Clinical criteria are:
- Moderately short-hulled stature
- Manifestation in late childhood
- Generalized platyspondyly , irregular borders of the vertebral bodies
- Skeleton otherwise normal
diagnosis
Genetic counseling can only relate to inheritance. A prenatal diagnosis is not possible and a specific therapy is not known.
Brachyolmia can also occur in the context of syndromes , such as brachyolmia and amelogenesis imperfecta .
Individual evidence
- ↑ a b c 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 b Brachyolmia. In: Orphanet (Rare Disease Database).
- ↑ A. Hobaek: Problems of Hereditary Chondrodysplasias. Oslo University Press, 1961, pp. 82-95.
- ^ G. Fontaine, P. Maroteaux, JP Farriaux, M. Bosquet: La dysplasie spondylaire pure ou brachyolmie. In: Archives françaises de pédiatrie. Vol. 32, No. 8, October 1975, pp. 695-708, PMID 816327 .
- ↑ BCYM1A. In: Online Mendelian Inheritance in Man . (English)
- ↑ BCYM1B. In: Online Mendelian Inheritance in Man . (English)
- ↑ BCYM2. In: Online Mendelian Inheritance in Man . (English)
- ↑ BCYM3. In: Online Mendelian Inheritance in Man . (English)
- ↑ BCYM4. In: Online Mendelian Inheritance in Man . (English)