Atelosteogenesis
Classification according to ICD-10 | |
---|---|
Q78.8 | Other specified osteochondrodysplasias |
Q77.5 | Diastrophic dysplasia |
ICD-10 online (WHO version 2019) |
The atelosteogenesis (from ancient Greek ἀτέλος atelos , German 'incomplete' , οστέον ostéon , German 'bones' and γένεσις génesis , German 'origin' ) is a very rare fatal congenital skeletal dysplasia with incomplete bone formation, short limbs and other changes. The thoracic spine, upper arm and thigh are particularly affected.
It was first described in 1982 by the Parisian pediatrician and geneticist Pierre Maroteaux and colleagues.
classification
According to the underlying genetic defects, the following types are distinguished:
- Atelosteogenesis I (AO1), autosomal dominant inheritance , mutations in the FLNB gene , which codes for filamin B, at location 3p14.3
- Atelosteogenesis II (AO2), autosomal - recessive mutations in SLC26A2 gene encoded at the location 5q32 or mutations in DTDST gene, the diastrophic dysplasia sulfate transporter.
- Atelosteogenesis III, autosomal dominant, very rare, mutations in the FLNB gene at location 3p14.3
The frequency is given as less than 1 in 1,000,000.
Atelosteogenesis type I.
Synonyms are: spondylo-humero-femoral dysplasia or hypoplasia; Giant cell chondrodysplasia The differentiation from boomerang dysplasia is problematic due to the x-ray image, so that the two diseases are clinically combined.
Atelosteogenesis type II
Synonyms are: De-la-Chapelle type dysplasia; Neonatal osseous dysplasia type 1 This type is related to the less severe diastrophic dysplasia and to the more severe achondrogenesis type IB .
Atelosteogenesis type III
Respiratory failure due to tracheomalacia and / or infections usually leads to early death. This type apparently only occurs sporadically.
Clinical manifestations
Common clinical criteria are:
- Manifestation in the newborn period
- Severe, disproportionate short stature that can already be seen in the womb , particular shortening of the proximal limbs
- Facial abnormalities with sunken nose, micro genius retro genius , often cleft palate
- Bent limbs, clubfoot , possibly laryngeal stenosis, kidney hypoplasia
diagnosis
The presence of bone dysplasia can be detected by fine ultrasound , and in the case of known mutations, the diagnosis by molecular genetics even before birth.
After the birth, pioneering findings can be found in x-rays of the skeleton (babygram); if necessary, the diagnosis can be confirmed by examining the tissue of bones and cartilage. Significant X-ray findings are:
- Ossification residues of the middle thoracic spine with thinning of the lower (distal) half of the vertebral bodies
- Shortening of the femur and humerus
- plump, irregular boiling centers of the metacarpal and metatarsals
literature
- D. Sillence, S. Worthington, J. Dixon, R. Osborn, K. Kozlowski: Atelosteogenesis syndromes: a review, with comments on their pathogenesis. In: Pediatric Radiology. Vol. 27, No. 5, May 1997, ISSN 0301-0449 , pp. 388-396, doi: 10.1007 / s002470050154 . PMID 9133349 (Review) ..
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 .
- ^ P. Maroteaux, J. Spranger, V. Stanescu, B. Le Marec, RA Pfeiffer, P. Beighton, JF Mattei: Atelosteogenesis. In: American journal of medical genetics. Vol. 13, No. 1, September 1982, ISSN 0148-7299 , pp. 15-25, doi: 10.1002 / ajmg.1320130106 . PMID 7137218 .
- ↑ AO1. In: Online Mendelian Inheritance in Man . (English)
- ↑ AO2. In: Online Mendelian Inheritance in Man . (English)
- ↑ Atelosteogenesis. In: Orphanet (Rare Disease Database).
- ↑ AO3. In: Online Mendelian Inheritance in Man . (English)
- ^ Atelosteogenesis I. In: Orphanet (database for rare diseases).
- ^ Atelosteogenesis II. In: Orphanet (database for rare diseases).
- ↑ Atelosteogenesis III. In: Orphanet (Rare Disease Database).