Antley-Bixler Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Antley-Bixler syndrome (ABS) is a very rare congenital Dysmorphiesyndrom with the main features of craniosynostosis , Kampomelie (bending of the upper and lower leg) and Ellbogenaplasie (humeroradial radial synostosis ).
Antley-Bixler syndrome is named after the US human geneticists Ray M. Antley and David Bixler , who first described the syndrome in 1975.
distribution
The frequency is given as less than 1 in 1,000,000, around 50 cases have been published in the specialist literature. Inheritance is autosomal - recessive . Both the female and the male sex can be affected.
Clinical features
The Antley-Bixler syndrome is characterized by
- a craniosynostosis , i.e. premature ossification of cranial sutures ,
- a hypoplasia of the midface,
- due to the absence or narrowing of the posterior nostril ( choanal atresia or choanal stenosis),
- due to synostoses of the humerus and radius or radius and ulna (humeroradial or radioulnar synostoses )
- by bending the femur and
- from joint contractures .
Some of the patients have anomalies of the genitourinary system with intersex genitalia.
Forms and causes
Antley-Bixler syndrome is genetically heterogeneous. A distinction was made between 2 types:
- Type I or ABS1 , synonyms: Antley-Bixler syndrome type 2; Antley-Bixler syndrome, POR-dependent, cytochrome POR deficiency , is now delimited as Antley-Bixler-like syndrome . It is caused by mutations in the POR - gene causes. POR codes for the enzyme NADPH cytochrome P450 oxidoreductase , which is located on chromosome 7 q11.23 in humans . The type I Antley-Bixler syndrome is characterized by an additional disturbance of the steroid - biosynthesis .
- Type II or ABS2 , the actual Antley-Bixler syndrome , is caused by mutations in the FGFR2 gene. The gene codes for the fibroblast growth factor receptor 2 (Fibroblast growth factor receptor 2), located in humans on the long arm of chromosome 10 locus q26.13). The steroid biosynthesis is not disturbed here.
In addition, it has been observed that the use of fluconazole , an antifungal drug , in early pregnancy can lead to the Antley-Bixler syndrome phenotype in the child.
Therapy and prognosis
A causal therapy is not known, so that only symptomatic therapy can be used. The prognosis is poor, mainly due to respiratory complications. Most of the patients died in infancy.
further reading
- RA Pagon, TD Bird: Cytochrome P450 Oxidoreductase Deficiency. GeneReviews, University of Washington, Seattle; last update on August 18, 2009. PMID 20301592
- NH Robin, MJ Falk: FGFR-Related Craniosynostosis Syndromes. GeneReviews, University of Washington, Seattle; last update on June 7, 2011. PMID 20301628
- FD Porter, GE Herman: Malformation syndromes caused by disorders of cholesterol synthesis. In: Journal of lipid research. Volume 52, Number 1, January 2011, pp. 6-34, ISSN 0022-2275 . doi: 10.1194 / jlr.R009548 . PMID 20929975 . PMC 2999931 (free full text). (Review).
- D. Cragun, RJ Hopkin: Use of the term "Antley-Bixler syndrome": minimizing confusion. In: American Journal of Human Genetics . Volume 77, Number 2, August 2005, pp. 327-328, ISSN 0002-9297 . doi: 10.1086 / 432164 . PMID 16145814 . PMC 1224535 (free full text).
- HS Hosalkar, HS Shah u. a .: The Antley-Bixler syndrome: two new cases. In: Journal of postgraduate medicine. Volume 47, Number 4, 2001 Oct-Dec, pp. 252-255, ISSN 0022-3859 . PMID 11832641 . (Review).
- KM Rumball, E. Pang, RM Letts: Musculoskeletal manifestations of the Antley-Bixler syndrome. In: Journal of pediatric orthopedics. Part B. Volume 8, Number 2, April 1999, pp. 139-143, ISSN 1060-152X . PMID 10218180 . (Review).
- L. Bottero, G. Cinalli, et al. a .: Antley-Bixler syndrome. Description of two new cases and a review of the literature. In: Child's nervous system: ChNS: official journal of the International Society for Pediatric Neurosurgery. Volume 13, Number 5, May 1997, pp. 275-280, ISSN 0256-7040 . PMID 9224917 . (Review).
Individual evidence
- ^ A b c Jürgen Kunze: Wiedemann's Atlas of clinical syndromes. Phenomenology, etiology, differential diagnosis. Schattauer Verlag, 2009, ISBN 978-3-7945-2657-4 , p. 246
- ↑ a b Antley-Bixler syndrome. In: Orphanet (Rare Disease Database).
- ^ R. Antley, D. Bixler: Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. In: Birth defects original article series. Volume 11, Number 2, 1975, pp. 397-401, ISSN 0547-6844 . PMID 1227559 .
- ^ Antley-Bixler syndrome on whonamedit.com
- ↑ a b J. M. Ko, CK Cheon u. a .: A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. In: European Journal of Pediatrics. Volume 168, Number 7, July 2009, pp. 877-880, ISSN 1432-1076 . doi: 10.1007 / s00431-008-0849-0 . PMID 18853185 .
- ^ Antley-Bixler-like syndrome - intersexual genitals - steroid metabolism disorders. In: Orphanet (Rare Disease Database).
- ↑ Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. In: Online Mendelian Inheritance in Man . (English)
- ↑ ABS2. In: Online Mendelian Inheritance in Man . (English)
- ↑ G. Baujat: Antley-Bixler syndrome. Orphanet, January 2007 , last accessed on January 4, 2012
